Mitochondrial myopathy (English Wikipedia)

Analysis of information sources in references of the Wikipedia article "Mitochondrial myopathy" in English language version.

refsWebsite

Global rank English rank

42nih.gov

4^th place

31omim.org

4,380^th place

4,305^th place

23doi.org

2^nd place

9worldcat.org

5^th place

6semanticscholar.org

11^th place

8^th place

3sciencedirect.com

149^th place

178^th place

1practicalneurology.com

low place

1harvard.edu

18^th place

17^th place

1nature.com

234^th place

397^th place

1medlineplus.gov

1,581^st place

1,299^th place

1wiley.com

222^nd place

297^th place

doi.org

Heydemann A (June 2018). "Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies". Nutrients. 10 (6): 796. doi:10.3390/nu10060796. PMC 6024668. PMID 29925809.
Song BJ, Akbar M, Abdelmegeed MA, Byun K, Lee B, Yoon SK, Hardwick JP (2014-01-01). "Mitochondrial dysfunction and tissue injury by alcohol, high fat, nonalcoholic substances and pathological conditions through post-translational protein modifications". Redox Biology. 3: 109–123. doi:10.1016/j.redox.2014.10.004. PMC 4297931. PMID 25465468. S2CID 17113550.
Urtizberea JA, Severa G, Malfatti E (April 2023). "Metabolic Myopathies in the Era of Next-Generation Sequencing". Genes. 14 (5): 954. doi:10.3390/genes14050954. PMC 10217901. PMID 37239314.
Sarnat, Harvey B.; Marín-García, José (May 2005). "Pathology of Mitochondrial Encephalomyopathies". Canadian Journal of Neurological Sciences. 32 (2): 152–166. doi:10.1017/S0317167100003929. ISSN 0317-1671. PMID 16018150. S2CID 1922603.
Tobon A (December 2013). "Metabolic myopathies". Continuum. 19 (6 Muscle Disease): 1571–1597. doi:10.1212/01.CON.0000440660.41675.06. PMC 10563931. PMID 24305448. S2CID 11050341.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F (May 2020). "Exercise efficiency impairment in metabolic myopathies". Scientific Reports. 10 (1): 8765. Bibcode:2020NatSR..10.8765N. doi:10.1038/s41598-020-65770-y. PMC 7260200. PMID 32472082.
Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J.; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele (December 2017). "A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy". Journal of Medical Genetics. 54 (12): 815–824. doi:10.1136/jmedgenet-2017-104822. ISSN 1468-6244. PMC 5740555. PMID 29079705.
Straub V, Murphy A, Udd B (August 2018). "229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, et al. (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. PMC 2987336. PMID 20068593.
Sanaker, Petter S.; Toompuu, Marina; Hogan, Vanessa E.; He, Langping; Tzoulis, Charalampos; Chrzanowska-Lightowlers, Zofia M. A.; Taylor, Robert W.; Bindoff, Laurence A. (2010-06-01). "Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (6): 539–544. doi:10.1016/j.bbadis.2010.02.010. ISSN 0925-4439.
Shaul, Orit (2017-10-01). "How introns enhance gene expression". The International Journal of Biochemistry & Cell Biology. Splicing. 91: 145–155. doi:10.1016/j.biocel.2017.06.016. ISSN 1357-2725.
Rifai Z, Welle S, Kamp C, Thornton CA (January 1995). "Ragged red fibers in normal aging and inflammatory myopathy". Annals of Neurology. 37 (1): 24–29. doi:10.1002/ana.410370107. PMID 7818253. S2CID 23909958.
Gomes AP, Price NL, Ling AJ, Moslehi JJ, Montgomery MK, Rajman L, et al. (December 2013). "Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during aging". Cell. 155 (7): 1624–1638. doi:10.1016/j.cell.2013.11.037. PMC 4076149. PMID 24360282.
Kim JM (November 2017). "Myopathy, Drugs, and Mitochondria". Journal of Korean Medical Science. 32 (11): 1732–1733. doi:10.3346/jkms.2017.32.11.1732. PMC 5639049. PMID 28960021.
Coulter DL (2014-01-01). "Carnitine Deficiency". In Aminoff MJ, Daroff RB (eds.). Encyclopedia of the Neurological Sciences (Second ed.). Oxford: Academic Press. pp. 597–599. doi:10.1016/B978-0-12-385157-4.00079-8. ISBN 978-0-12-385158-1. Retrieved 2023-11-30.
Li Q, Yang C, Feng L, Zhao Y, Su Y, Liu H, et al. (2021). "Glutaric Acidemia, Pathogenesis and Nutritional Therapy". Frontiers in Nutrition. 8: 704984. doi:10.3389/fnut.2021.704984. PMC 8714794. PMID 34977106.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, et al. (March 2016). "Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease". Revue Neurologique. 172 (3): 231–241. doi:10.1016/j.neurol.2015.11.008. PMID 27038534.
Henriques BJ, Katrine Jentoft Olsen R, Gomes CM, Bross P (April 2021). "Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease". Gene. 776: 145407. doi:10.1016/j.gene.2021.145407. PMC 7949704. PMID 33450351.
Schoser, B. G. H.; Müller-Höcker, J.; Horvath, R.; Gempel, K.; Pongratz, D.; Lochmüller, H.; Müller-Felber, W. (October 2007). "Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited". Neuropathology and Applied Neurobiology. 33 (5): 544–559. doi:10.1111/j.1365-2990.2007.00839.x. ISSN 0305-1846. PMID 17573812. S2CID 25822083.
Saha, Madhurima; Reddy, Hemakumar M.; Salih, Mustafa A.; Estrella, Elicia; Jones, Michael D.; Mitsuhashi, Satomi; Cho, Kyung-Ah; Suzuki-Hatano, Silveli; Rizzo, Skylar A.; Hamad, Muddathir H.; Mukhtar, Maowia M.; Hamed, Ahlam A.; Elseed, Maha A.; Lek, Monkol; Valkanas, Elise (2018-11-01). "Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan". Physiological Genomics. 50 (11): 929–939. doi:10.1152/physiolgenomics.00036.2018. ISSN 1531-2267. PMC 6293114. PMID 30345904.
Veerapandiyan A, Shashi V, Jiang YH, Gallentine WB, Schoch K, Smith EC (December 2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10.1002/mus.21823. PMC 5506871. PMID 21104870.
Barton, Elisabeth R.; Pacak, Christina A.; Stoppel, Whitney L.; Kang, Peter B. (2020-07-29). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. ISSN 2044-5040. PMC 7389686. PMID 32727611.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.

harvard.edu

ui.adsabs.harvard.edu

Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F (May 2020). "Exercise efficiency impairment in metabolic myopathies". Scientific Reports. 10 (1): 8765. Bibcode:2020NatSR..10.8765N. doi:10.1038/s41598-020-65770-y. PMC 7260200. PMID 32472082.

medlineplus.gov

"What is noncoding DNA?: MedlinePlus Genetics". medlineplus.gov. Retrieved 2024-04-11.

nature.com

"Nutrient Metabolism, Human | Learn Science at Scitable". www.nature.com. Retrieved 2024-04-05.

nih.gov

pubmed.ncbi.nlm.nih.gov

Heydemann A (June 2018). "Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies". Nutrients. 10 (6): 796. doi:10.3390/nu10060796. PMC 6024668. PMID 29925809.
Simon L, Jolley SE, Molina PE (2017). "Alcoholic Myopathy: Pathophysiologic Mechanisms and Clinical Implications". Alcohol Research. 38 (2): 207–217. PMC 5513686. PMID 28988574.
Song BJ, Akbar M, Abdelmegeed MA, Byun K, Lee B, Yoon SK, Hardwick JP (2014-01-01). "Mitochondrial dysfunction and tissue injury by alcohol, high fat, nonalcoholic substances and pathological conditions through post-translational protein modifications". Redox Biology. 3: 109–123. doi:10.1016/j.redox.2014.10.004. PMC 4297931. PMID 25465468. S2CID 17113550.
Urtizberea JA, Severa G, Malfatti E (April 2023). "Metabolic Myopathies in the Era of Next-Generation Sequencing". Genes. 14 (5): 954. doi:10.3390/genes14050954. PMC 10217901. PMID 37239314.
Sarnat, Harvey B.; Marín-García, José (May 2005). "Pathology of Mitochondrial Encephalomyopathies". Canadian Journal of Neurological Sciences. 32 (2): 152–166. doi:10.1017/S0317167100003929. ISSN 0317-1671. PMID 16018150. S2CID 1922603.
Tobon A (December 2013). "Metabolic myopathies". Continuum. 19 (6 Muscle Disease): 1571–1597. doi:10.1212/01.CON.0000440660.41675.06. PMC 10563931. PMID 24305448. S2CID 11050341.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F (May 2020). "Exercise efficiency impairment in metabolic myopathies". Scientific Reports. 10 (1): 8765. Bibcode:2020NatSR..10.8765N. doi:10.1038/s41598-020-65770-y. PMC 7260200. PMID 32472082.
Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J.; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele (December 2017). "A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy". Journal of Medical Genetics. 54 (12): 815–824. doi:10.1136/jmedgenet-2017-104822. ISSN 1468-6244. PMC 5740555. PMID 29079705.
Straub V, Murphy A, Udd B (August 2018). "229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, et al. (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. PMC 2987336. PMID 20068593.
Moraes, C. T.; Shanske, S.; Tritschler, H. J.; Aprille, J. R.; Andreetta, F.; Bonilla, E.; Schon, E. A.; DiMauro, S. (March 1991). "mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases". American Journal of Human Genetics. 48 (3): 492–501. ISSN 0002-9297. PMC 1682992. PMID 1998336.
Rifai Z, Welle S, Kamp C, Thornton CA (January 1995). "Ragged red fibers in normal aging and inflammatory myopathy". Annals of Neurology. 37 (1): 24–29. doi:10.1002/ana.410370107. PMID 7818253. S2CID 23909958.
Gomes AP, Price NL, Ling AJ, Moslehi JJ, Montgomery MK, Rajman L, et al. (December 2013). "Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during aging". Cell. 155 (7): 1624–1638. doi:10.1016/j.cell.2013.11.037. PMC 4076149. PMID 24360282.
Kim JM (November 2017). "Myopathy, Drugs, and Mitochondria". Journal of Korean Medical Science. 32 (11): 1732–1733. doi:10.3346/jkms.2017.32.11.1732. PMC 5639049. PMID 28960021.
Li Q, Yang C, Feng L, Zhao Y, Su Y, Liu H, et al. (2021). "Glutaric Acidemia, Pathogenesis and Nutritional Therapy". Frontiers in Nutrition. 8: 704984. doi:10.3389/fnut.2021.704984. PMC 8714794. PMID 34977106.
Béhin A, Acquaviva-Bourdain C, Souvannanorath S, Streichenberger N, Attarian S, Bassez G, et al. (March 2016). "Multiple acyl-CoA dehydrogenase deficiency (MADD) as a cause of late-onset treatable metabolic disease". Revue Neurologique. 172 (3): 231–241. doi:10.1016/j.neurol.2015.11.008. PMID 27038534.
Henriques BJ, Katrine Jentoft Olsen R, Gomes CM, Bross P (April 2021). "Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease". Gene. 776: 145407. doi:10.1016/j.gene.2021.145407. PMC 7949704. PMID 33450351.
Schoser, B. G. H.; Müller-Höcker, J.; Horvath, R.; Gempel, K.; Pongratz, D.; Lochmüller, H.; Müller-Felber, W. (October 2007). "Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited". Neuropathology and Applied Neurobiology. 33 (5): 544–559. doi:10.1111/j.1365-2990.2007.00839.x. ISSN 0305-1846. PMID 17573812. S2CID 25822083.
Saha, Madhurima; Reddy, Hemakumar M.; Salih, Mustafa A.; Estrella, Elicia; Jones, Michael D.; Mitsuhashi, Satomi; Cho, Kyung-Ah; Suzuki-Hatano, Silveli; Rizzo, Skylar A.; Hamad, Muddathir H.; Mukhtar, Maowia M.; Hamed, Ahlam A.; Elseed, Maha A.; Lek, Monkol; Valkanas, Elise (2018-11-01). "Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan". Physiological Genomics. 50 (11): 929–939. doi:10.1152/physiolgenomics.00036.2018. ISSN 1531-2267. PMC 6293114. PMID 30345904.
Veerapandiyan A, Shashi V, Jiang YH, Gallentine WB, Schoch K, Smith EC (December 2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10.1002/mus.21823. PMC 5506871. PMID 21104870.
Barton, Elisabeth R.; Pacak, Christina A.; Stoppel, Whitney L.; Kang, Peter B. (2020-07-29). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. ISSN 2044-5040. PMC 7389686. PMID 32727611.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.

ncbi.nlm.nih.gov

Heydemann A (June 2018). "Skeletal Muscle Metabolism in Duchenne and Becker Muscular Dystrophy-Implications for Therapies". Nutrients. 10 (6): 796. doi:10.3390/nu10060796. PMC 6024668. PMID 29925809.
Simon L, Jolley SE, Molina PE (2017). "Alcoholic Myopathy: Pathophysiologic Mechanisms and Clinical Implications". Alcohol Research. 38 (2): 207–217. PMC 5513686. PMID 28988574.
Song BJ, Akbar M, Abdelmegeed MA, Byun K, Lee B, Yoon SK, Hardwick JP (2014-01-01). "Mitochondrial dysfunction and tissue injury by alcohol, high fat, nonalcoholic substances and pathological conditions through post-translational protein modifications". Redox Biology. 3: 109–123. doi:10.1016/j.redox.2014.10.004. PMC 4297931. PMID 25465468. S2CID 17113550.
Urtizberea JA, Severa G, Malfatti E (April 2023). "Metabolic Myopathies in the Era of Next-Generation Sequencing". Genes. 14 (5): 954. doi:10.3390/genes14050954. PMC 10217901. PMID 37239314.
"Ragged-red muscle fibers - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2024-01-05.
Tobon A (December 2013). "Metabolic myopathies". Continuum. 19 (6 Muscle Disease): 1571–1597. doi:10.1212/01.CON.0000440660.41675.06. PMC 10563931. PMID 24305448. S2CID 11050341.
Noury JB, Zagnoli F, Petit F, Marcorelles P, Rannou F (May 2020). "Exercise efficiency impairment in metabolic myopathies". Scientific Reports. 10 (1): 8765. Bibcode:2020NatSR..10.8765N. doi:10.1038/s41598-020-65770-y. PMC 7260200. PMID 32472082.
Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J.; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele (December 2017). "A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy". Journal of Medical Genetics. 54 (12): 815–824. doi:10.1136/jmedgenet-2017-104822. ISSN 1468-6244. PMC 5740555. PMID 29079705.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, et al. (June 2010). "A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H". European Journal of Human Genetics. 18 (6): 636–641. doi:10.1038/ejhg.2009.235. PMC 2987336. PMID 20068593.
Moraes, C. T.; Shanske, S.; Tritschler, H. J.; Aprille, J. R.; Andreetta, F.; Bonilla, E.; Schon, E. A.; DiMauro, S. (March 1991). "mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases". American Journal of Human Genetics. 48 (3): 492–501. ISSN 0002-9297. PMC 1682992. PMID 1998336.
"Ragged-red muscle fibers (Concept Id: C3275417) - MedGen - NCBI". www.ncbi.nlm.nih.gov. Retrieved 2023-12-06.
Gomes AP, Price NL, Ling AJ, Moslehi JJ, Montgomery MK, Rajman L, et al. (December 2013). "Declining NAD(+) induces a pseudohypoxic state disrupting nuclear-mitochondrial communication during aging". Cell. 155 (7): 1624–1638. doi:10.1016/j.cell.2013.11.037. PMC 4076149. PMID 24360282.
Kim JM (November 2017). "Myopathy, Drugs, and Mitochondria". Journal of Korean Medical Science. 32 (11): 1732–1733. doi:10.3346/jkms.2017.32.11.1732. PMC 5639049. PMID 28960021.
Li Q, Yang C, Feng L, Zhao Y, Su Y, Liu H, et al. (2021). "Glutaric Acidemia, Pathogenesis and Nutritional Therapy". Frontiers in Nutrition. 8: 704984. doi:10.3389/fnut.2021.704984. PMC 8714794. PMID 34977106.
Henriques BJ, Katrine Jentoft Olsen R, Gomes CM, Bross P (April 2021). "Electron transfer flavoprotein and its role in mitochondrial energy metabolism in health and disease". Gene. 776: 145407. doi:10.1016/j.gene.2021.145407. PMC 7949704. PMID 33450351.
Saha, Madhurima; Reddy, Hemakumar M.; Salih, Mustafa A.; Estrella, Elicia; Jones, Michael D.; Mitsuhashi, Satomi; Cho, Kyung-Ah; Suzuki-Hatano, Silveli; Rizzo, Skylar A.; Hamad, Muddathir H.; Mukhtar, Maowia M.; Hamed, Ahlam A.; Elseed, Maha A.; Lek, Monkol; Valkanas, Elise (2018-11-01). "Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan". Physiological Genomics. 50 (11): 929–939. doi:10.1152/physiolgenomics.00036.2018. ISSN 1531-2267. PMC 6293114. PMID 30345904.
Veerapandiyan A, Shashi V, Jiang YH, Gallentine WB, Schoch K, Smith EC (December 2010). "Pseudometabolic presentation of dystrophinopathy due to a missense mutation". Muscle & Nerve. 42 (6): 975–979. doi:10.1002/mus.21823. PMC 5506871. PMID 21104870.
Barton, Elisabeth R.; Pacak, Christina A.; Stoppel, Whitney L.; Kang, Peter B. (2020-07-29). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. ISSN 2044-5040. PMC 7389686. PMID 32727611.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.

ninds.nih.gov

"Mitochondrial Myopathy Information Page | National Institute of Neurological Disorders and Stroke". www.ninds.nih.gov. Retrieved 2017-02-28.

omim.org

"#540000 - MITOCHONDRIAL MYOPATHY, ENCEPHALOPATHY, LACTIC ACIDOSIS, AND STROKE-LIKE EPISODES; MELAS". www.omim.org. Retrieved 2023-11-24.
"#545000 - MYOCLONIC EPILEPSY ASSOCIATED WITH RAGGED-RED FIBERS; MERRF". www.omim.org. Retrieved 2023-11-24.
"#530000 - KEARNS-SAYRE SYNDROME; KSS". www.omim.org. Retrieved 2023-11-24.
"Phenotypic Series - PS157640 - CPEO - OMIM". www.omim.org. Retrieved 2023-11-24.
"Phenotypic Series - PS603041 - Mitochondrial DNA depletion syndrome - OMIM". www.omim.org. Retrieved 2023-11-24.
"#500009 - MITOCHONDRIAL MYOPATHY, INFANTILE, TRANSIENT; MMIT". www.omim.org. Retrieved 2023-11-24.
"#551000 - MITOCHONDRIAL MYOPATHY, LETHAL, INFANTILE; LIMM". www.omim.org. Retrieved 2023-11-30.
"#255125 - MYOPATHY WITH LACTIC ACIDOSIS, HEREDITARY; HML". www.omim.org. Retrieved 2023-11-24.
"#500002 - MITOCHONDRIAL MYOPATHY WITH DIABETES". www.omim.org. Retrieved 2023-11-24.
"DIABETES AND DEAFNESS, MATERNALLY INHERITED; MIDD - OMIM". www.omim.org. Retrieved 2024-03-02.
"#613076 - MYOPATHY, MITOCHONDRIAL PROGRESSIVE, WITH CONGENITAL CATARACT AND DEVELOPMENTAL DELAY; MPMCD". www.omim.org. Retrieved 2023-11-24.
"Phenotypic Series - PS600462 - Myopathy, lactic acidosis, and sideroblastic anemia (MLASA) - OMIM". www.omim.org. Retrieved 2023-11-30.
"Allelic Variants - 516060 - MT-ATP6 - OMIM". www.omim.org. Retrieved 2023-11-30.
"616209 - MYOPATHY, ISOLATED MITOCHONDRIAL, AUTOSOMAL DOMINANT; IMMD". www.omim.org. Retrieved 2023-11-30.
"#617675 - MYOPATHY, MITOCHONDRIAL, AND ATAXIA; MMYAT". www.omim.org. Retrieved 2023-11-30.
"#251900 - MITOCHONDRIAL MYOPATHY, EPISODIC, WITH OR WITHOUT OPTIC ATROPHY AND REVERSIBLE LEUKOENCEPHALOPATHY; MEOAL". www.omim.org. Retrieved 2023-11-30.
"#251950 - MITOCHONDRIAL MYOPATHY WITH LACTIC ACIDOSIS; MMLA". www.omim.org. Retrieved 2023-11-30.
"251945 - MITOCHONDRIAL MYOPATHY WITH A DEFECT IN MITOCHONDRIAL-PROTEIN TRANSPORT". www.omim.org. Retrieved 2023-11-30.
"*590000 - TRANSFER RNA, MITOCHONDRIAL, ALANINE; MTTA". www.omim.org. Retrieved 2023-11-30.
"*590015 - TRANSFER RNA, MITOCHONDRIAL, ASPARTIC ACID; MT-TD". www.omim.org. Retrieved 2023-11-30.
"Allelic Variants - 590095 - TRANSFER RNA, MITOCHONDRIAL, TRYPTOPHAN; MT-TW - OMIM". www.omim.org. Retrieved 2023-11-30.
"Phenotypic Series - PS607426 - Coenzyme Q10 deficiency - OMIM". omim.org. Retrieved 2023-11-30.
"Phenotypic Series - PS252010 - Mitochondrial Complex I deficiency, nuclear type - OMIM". www.omim.org. Retrieved 2023-11-30.
"Phenotypic Series - PS252011 - mitochondrial complex II - OMIM". www.omim.org. Retrieved 2023-11-30.
"Allelic Variants - 516020 - cytochrome b of complex III - OMIM". www.omim.org. Retrieved 2023-11-30.
"Phenotypic Series - PS124000 - Mitochondrial complex III deficiency, nuclear type - OMIM". www.omim.org. Retrieved 2023-12-01.
"Phenotypic Series - PS220110 - Mitochondrial complex IV deficiency - OMIM". www.omim.org. Retrieved 2023-11-30.
"Phenotypic Series - PS604273 - Mitochondrial complex V deficiency - OMIM". www.omim.org. Retrieved 2023-12-01.
"613530 - MUSCULAR DYSTROPHY, LIMB-GIRDLE, TYPE 1H; LGMD1H". www.omim.org. Retrieved 2023-11-30.
"#609560 - MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2". www.omim.org. Retrieved 2023-12-06.
"#616839 - EXERCISE INTOLERANCE, RIBOFLAVIN-RESPONSIVE; RREI". www.omim.org. Retrieved 2023-11-24.

practicalneurology.com

Bhai S (September 2021). "Neuromuscular Notes: Diagnosing Metabolic Myopathies". Practical Neurology.

sciencedirect.com

Sanaker, Petter S.; Toompuu, Marina; Hogan, Vanessa E.; He, Langping; Tzoulis, Charalampos; Chrzanowska-Lightowlers, Zofia M. A.; Taylor, Robert W.; Bindoff, Laurence A. (2010-06-01). "Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (6): 539–544. doi:10.1016/j.bbadis.2010.02.010. ISSN 0925-4439.
Shaul, Orit (2017-10-01). "How introns enhance gene expression". The International Journal of Biochemistry & Cell Biology. Splicing. 91: 145–155. doi:10.1016/j.biocel.2017.06.016. ISSN 1357-2725.
Coulter DL (2014-01-01). "Carnitine Deficiency". In Aminoff MJ, Daroff RB (eds.). Encyclopedia of the Neurological Sciences (Second ed.). Oxford: Academic Press. pp. 597–599. doi:10.1016/B978-0-12-385157-4.00079-8. ISBN 978-0-12-385158-1. Retrieved 2023-11-30.

semanticscholar.org

api.semanticscholar.org

Song BJ, Akbar M, Abdelmegeed MA, Byun K, Lee B, Yoon SK, Hardwick JP (2014-01-01). "Mitochondrial dysfunction and tissue injury by alcohol, high fat, nonalcoholic substances and pathological conditions through post-translational protein modifications". Redox Biology. 3: 109–123. doi:10.1016/j.redox.2014.10.004. PMC 4297931. PMID 25465468. S2CID 17113550.
Sarnat, Harvey B.; Marín-García, José (May 2005). "Pathology of Mitochondrial Encephalomyopathies". Canadian Journal of Neurological Sciences. 32 (2): 152–166. doi:10.1017/S0317167100003929. ISSN 0317-1671. PMID 16018150. S2CID 1922603.
Tobon A (December 2013). "Metabolic myopathies". Continuum. 19 (6 Muscle Disease): 1571–1597. doi:10.1212/01.CON.0000440660.41675.06. PMC 10563931. PMID 24305448. S2CID 11050341.
Straub V, Murphy A, Udd B (August 2018). "229th ENMC international workshop: Limb girdle muscular dystrophies - Nomenclature and reformed classification Naarden, the Netherlands, 17-19 March 2017". Neuromuscular Disorders. 28 (8): 702–710. doi:10.1016/j.nmd.2018.05.007. PMID 30055862. S2CID 51865029.
Rifai Z, Welle S, Kamp C, Thornton CA (January 1995). "Ragged red fibers in normal aging and inflammatory myopathy". Annals of Neurology. 37 (1): 24–29. doi:10.1002/ana.410370107. PMID 7818253. S2CID 23909958.
Schoser, B. G. H.; Müller-Höcker, J.; Horvath, R.; Gempel, K.; Pongratz, D.; Lochmüller, H.; Müller-Felber, W. (October 2007). "Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited". Neuropathology and Applied Neurobiology. 33 (5): 544–559. doi:10.1111/j.1365-2990.2007.00839.x. ISSN 0305-1846. PMID 17573812. S2CID 25822083.

wiley.com

onlinelibrary.wiley.com

Schoser, B. G. H.; Müller-Höcker, J.; Horvath, R.; Gempel, K.; Pongratz, D.; Lochmüller, H.; Müller-Felber, W. (October 2007). "Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited". Neuropathology and Applied Neurobiology. 33 (5): 544–559. doi:10.1111/j.1365-2990.2007.00839.x. ISSN 0305-1846. PMID 17573812. S2CID 25822083.

worldcat.org

search.worldcat.org

Sarnat, Harvey B.; Marín-García, José (May 2005). "Pathology of Mitochondrial Encephalomyopathies". Canadian Journal of Neurological Sciences. 32 (2): 152–166. doi:10.1017/S0317167100003929. ISSN 0317-1671. PMID 16018150. S2CID 1922603.
Legati, Andrea; Reyes, Aurelio; Ceccatelli Berti, Camilla; Stehling, Oliver; Marchet, Silvia; Lamperti, Costanza; Ferrari, Alberto; Robinson, Alan J.; Mühlenhoff, Ulrich; Lill, Roland; Zeviani, Massimo; Goffrini, Paola; Ghezzi, Daniele (December 2017). "A novel de novo dominant mutation in ISCU associated with mitochondrial myopathy". Journal of Medical Genetics. 54 (12): 815–824. doi:10.1136/jmedgenet-2017-104822. ISSN 1468-6244. PMC 5740555. PMID 29079705.
Sanaker, Petter S.; Toompuu, Marina; Hogan, Vanessa E.; He, Langping; Tzoulis, Charalampos; Chrzanowska-Lightowlers, Zofia M. A.; Taylor, Robert W.; Bindoff, Laurence A. (2010-06-01). "Differences in RNA processing underlie the tissue specific phenotype of ISCU myopathy". Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease. 1802 (6): 539–544. doi:10.1016/j.bbadis.2010.02.010. ISSN 0925-4439.
Shaul, Orit (2017-10-01). "How introns enhance gene expression". The International Journal of Biochemistry & Cell Biology. Splicing. 91: 145–155. doi:10.1016/j.biocel.2017.06.016. ISSN 1357-2725.
Moraes, C. T.; Shanske, S.; Tritschler, H. J.; Aprille, J. R.; Andreetta, F.; Bonilla, E.; Schon, E. A.; DiMauro, S. (March 1991). "mtDNA depletion with variable tissue expression: a novel genetic abnormality in mitochondrial diseases". American Journal of Human Genetics. 48 (3): 492–501. ISSN 0002-9297. PMC 1682992. PMID 1998336.
Schoser, B. G. H.; Müller-Höcker, J.; Horvath, R.; Gempel, K.; Pongratz, D.; Lochmüller, H.; Müller-Felber, W. (October 2007). "Adult-onset glycogen storage disease type 2: clinico-pathological phenotype revisited". Neuropathology and Applied Neurobiology. 33 (5): 544–559. doi:10.1111/j.1365-2990.2007.00839.x. ISSN 0305-1846. PMID 17573812. S2CID 25822083.
Saha, Madhurima; Reddy, Hemakumar M.; Salih, Mustafa A.; Estrella, Elicia; Jones, Michael D.; Mitsuhashi, Satomi; Cho, Kyung-Ah; Suzuki-Hatano, Silveli; Rizzo, Skylar A.; Hamad, Muddathir H.; Mukhtar, Maowia M.; Hamed, Ahlam A.; Elseed, Maha A.; Lek, Monkol; Valkanas, Elise (2018-11-01). "Impact of PYROXD1 deficiency on cellular respiration and correlations with genetic analyses of limb-girdle muscular dystrophy in Saudi Arabia and Sudan". Physiological Genomics. 50 (11): 929–939. doi:10.1152/physiolgenomics.00036.2018. ISSN 1531-2267. PMC 6293114. PMID 30345904.
Barton, Elisabeth R.; Pacak, Christina A.; Stoppel, Whitney L.; Kang, Peter B. (2020-07-29). "The ties that bind: functional clusters in limb-girdle muscular dystrophy". Skeletal Muscle. 10 (1): 22. doi:10.1186/s13395-020-00240-7. ISSN 2044-5040. PMC 7389686. PMID 32727611.
Sainio, Markus T.; Välipakka, Salla; Rinaldi, Bruno; Lapatto, Helena; Paetau, Anders; Ojanen, Simo; Brilhante, Virginia; Jokela, Manu; Huovinen, Sanna; Auranen, Mari; Palmio, Johanna; Friant, Sylvie; Ylikallio, Emil; Udd, Bjarne; Tyynismaa, Henna (February 2019). "Recessive PYROXD1 mutations cause adult-onset limb-girdle-type muscular dystrophy". Journal of Neurology. 266 (2): 353–360. doi:10.1007/s00415-018-9137-8. ISSN 1432-1459. PMC 6373352. PMID 30515627.