Параміотонія вроджена (Ukrainian Wikipedia)

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de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve. 13 (1): 21—6. doi:10.1002/mus.880130106. PMID 2325698.
Cannon S, Brown R, Corey D (1993). Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J. 65 (1): 270—88. doi:10.1016/S0006-3495(93)81045-2. PMC 1225722. PMID 8396455.
Kim J, Hahn Y, Sohn E, Lee Y, Yun J, Kim J, Chung J (2001). Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry. 70 (5): 618—23. doi:10.1136/jnnp.70.5.618. PMC 1737343. PMID 11309455.
Ptáĉek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, Mendell J, Harris C, Spitzer R, Santiago F (1994). Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 44 (8): 1500—3. doi:10.1212/wnl.44.8.1500. PMID 8058156.
Lerche H, Heine R, Pika U, George A, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M (1993). Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 470: 13—22. doi:10.1113/jphysiol.1993.sp019843. PMC 1143902. PMID 8308722.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 33 (3): 300—7. doi:10.1002/ana.410330312. PMID 8388676.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology. 49 (4): 1018—25. doi:10.1212/wnl.49.4.1018. PMID 9339683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation. J Neurol. 248 (11): 1003—4. doi:10.1007/s004150170059. PMID 11757950.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. Hum Genet. 93 (6): 707—10. doi:10.1007/BF00201577. PMID 8005599.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve. 6 (2): 113—21. doi:10.1002/mus.880060206. PMID 6304507.
Subramony S, Malhotra C, Mishra S (1983). Distinguishing paramyotonia congenita and myotonia congenita by electromyography. Muscle Nerve. 6 (5): 374—9. doi:10.1002/mus.880060506. PMID 6888415.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z. та ін. (1984). Evoked response testing in myotonic syndromes. Muscle Nerve. 7 (7): 590—2. doi:10.1002/mus.880070709. PMID 6544373.

doi.org

de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve. 13 (1): 21—6. doi:10.1002/mus.880130106. PMID 2325698.
Cannon S, Brown R, Corey D (1993). Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J. 65 (1): 270—88. doi:10.1016/S0006-3495(93)81045-2. PMC 1225722. PMID 8396455.
Miller T, Dias da Silva M, Miller H, Kwiecinski H, Mendell J, Tawil R, McManis P, Griggs R, Angelini C, Servidei S, Petajan J, Dalakas M, Ranum L, Fu Y, Ptácek L (2004). Correlating phenotype and genotype in the periodic paralyses. Neurology. 63 (9): 1647—55. doi:10.1212/01.wnl.0000143383.91137.00. PMID 15534250.
Plassart E, Eymard B, Maurs L, Hauw J, Lyon-Caen O, Fardeau M, Fontaine B (1996). Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci. 142 (1–2): 126—33. doi:10.1016/0022-510X(96)00173-6. PMID 8902732.
Ptácek L, George A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991). Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 67 (5): 1021—7. doi:10.1016/0092-8674(91)90374-8. PMID 1659948.
Kim J, Hahn Y, Sohn E, Lee Y, Yun J, Kim J, Chung J (2001). Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry. 70 (5): 618—23. doi:10.1136/jnnp.70.5.618. PMC 1737343. PMID 11309455.
Brancati F, Valente E, Davies N, Sarkozy A, Sweeney M, LoMonaco M, Pizzuti A, Hanna M, Dallapiccola B (2003). Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry. 74 (9): 1339—41. doi:10.1136/jnnp.74.9.1339. PMC 1738672. PMID 12933953.
Ptáĉek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, Mendell J, Harris C, Spitzer R, Santiago F (1994). Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 44 (8): 1500—3. doi:10.1212/wnl.44.8.1500. PMID 8058156.
McClatchey A, McKenna-Yasek D, Cros D, Worthen H, Kuncl R, DeSilva S, Cornblath D, Gusella J, Brown R (1992). Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 2 (2): 148—52. doi:10.1038/ng1092-148. PMID 1338909.
Bouhours M, Luce S, Sternberg D, Willer J, Fontaine B, Tabti N (2005). A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. J Physiol. 565 (Pt 2): 415—27. doi:10.1113/jphysiol.2004.081018. PMC 1464511. PMID 15790667.
McClatchey A, Van den Bergh P, Pericak-Vance M, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines J, Bird T, Brown R (1992). Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 68 (4): 769—74. doi:10.1016/0092-8674(92)90151-2. PMID 1310898.
Lerche H, Heine R, Pika U, George A, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M (1993). Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 470: 13—22. doi:10.1113/jphysiol.1993.sp019843. PMC 1143902. PMID 8308722.
Bouhours M, Sternberg D, Davoine C, Ferrer X, Willer J, Fontaine B, Tabti N (2004). Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol. 554 (Pt 3): 635—47. doi:10.1113/jphysiol.2003.053082. PMC 1664790. PMID 14617673.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 33 (3): 300—7. doi:10.1002/ana.410330312. PMID 8388676.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology. 49 (4): 1018—25. doi:10.1212/wnl.49.4.1018. PMID 9339683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation. J Neurol. 248 (11): 1003—4. doi:10.1007/s004150170059. PMID 11757950.
Ptácek L, George A, Barchi R, Griggs R, Riggs J, Robertson M, Leppert M (1992). Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 8 (5): 891—7. doi:10.1016/0896-6273(92)90203-P. PMID 1316765.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. Hum Genet. 93 (6): 707—10. doi:10.1007/BF00201577. PMID 8005599.
Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996). Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol. 39 (5): 599—608. doi:10.1002/ana.410390509. PMID 8619545.
Bendahhou S, Cummins T, Kwiecinski H, Waxman S, Ptácek L (1999). Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol. 518 (2): 337—44. doi:10.1111/j.1469-7793.1999.0337p.x. PMC 2269438. PMID 10381583.
Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S (1999). A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. Arch Neurol. 56 (6): 692—6. doi:10.1001/archneur.56.6.692. PMID 10369308.
Lehmann-Horn F, Rüdel R, Ricker K (1993). Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany. Neuromuscul Disord. 3 (2): 161—8. doi:10.1016/0960-8966(93)90009-9. PMID 7689382.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve. 6 (2): 113—21. doi:10.1002/mus.880060206. PMID 6304507.
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFarlane H, Yasek D (1990). Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 250 (4983): 1000—2. doi:10.1126/science.2173143. PMID 2173143.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 354 (6352): 387—9. doi:10.1038/354387a0. PMID 1659668.
Heine R, Pika U, Lehmann-Horn F (1993). A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet. 2 (9): 1349—53. doi:10.1093/hmg/2.9.1349. PMID 8242056.
Kelly P, Yang W, Costigan D, Farrell M, Murphy S, Hardiman O (1997). Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype. Neuromuscul Disord. 7 (2): 105—11. doi:10.1016/S0960-8966(96)00429-4. PMID 9131651.
Wu F, Gordon E, Hoffman E, Cannon S (2005). A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation. J Physiol. 565 (Pt 2): 371—80. doi:10.1113/jphysiol.2005.082909. PMC 1464529. PMID 15774523.
Vicart S, Sternberg D, Fontaine B, Meola G (2005). Human skeletal muscle sodium channelopathies. Neurol Sci. 26 (4): 194—202. doi:10.1007/s10072-005-0461-x. PMID 16193245.
Subramony S, Malhotra C, Mishra S (1983). Distinguishing paramyotonia congenita and myotonia congenita by electromyography. Muscle Nerve. 6 (5): 374—9. doi:10.1002/mus.880060506. PMID 6888415.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z. та ін. (1984). Evoked response testing in myotonic syndromes. Muscle Nerve. 7 (7): 590—2. doi:10.1002/mus.880070709. PMID 6544373.

mdausa.org

Facts About Myopathies | MDA Publications [Архівовано 2007-08-05 у Wayback Machine.]

nih.gov

pubmed.ncbi.nlm.nih.gov

de Silva S, Kuncl R, Griffin J, Cornblath D, Chavoustie S (1990). Paramyotonia congenita or hyperkalemic periodic paralysis? Clinical and electrophysiological features of each entity in one family. Muscle Nerve. 13 (1): 21—6. doi:10.1002/mus.880130106. PMID 2325698.
Cannon S, Brown R, Corey D (1993). Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J. 65 (1): 270—88. doi:10.1016/S0006-3495(93)81045-2. PMC 1225722. PMID 8396455.
Miller T, Dias da Silva M, Miller H, Kwiecinski H, Mendell J, Tawil R, McManis P, Griggs R, Angelini C, Servidei S, Petajan J, Dalakas M, Ranum L, Fu Y, Ptácek L (2004). Correlating phenotype and genotype in the periodic paralyses. Neurology. 63 (9): 1647—55. doi:10.1212/01.wnl.0000143383.91137.00. PMID 15534250.
Plassart E, Eymard B, Maurs L, Hauw J, Lyon-Caen O, Fardeau M, Fontaine B (1996). Paramyotonia congenita: genotype to phenotype correlations in two families and report of a new mutation in the sodium channel gene. J Neurol Sci. 142 (1–2): 126—33. doi:10.1016/0022-510X(96)00173-6. PMID 8902732.
Ptácek L, George A, Griggs R, Tawil R, Kallen R, Barchi R, Robertson M, Leppert M (1991). Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell. 67 (5): 1021—7. doi:10.1016/0092-8674(91)90374-8. PMID 1659948.
Kim J, Hahn Y, Sohn E, Lee Y, Yun J, Kim J, Chung J (2001). Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry. 70 (5): 618—23. doi:10.1136/jnnp.70.5.618. PMC 1737343. PMID 11309455.
Brancati F, Valente E, Davies N, Sarkozy A, Sweeney M, LoMonaco M, Pizzuti A, Hanna M, Dallapiccola B (2003). Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry. 74 (9): 1339—41. doi:10.1136/jnnp.74.9.1339. PMC 1738672. PMID 12933953.
Ptáĉek L, Tawil R, Griggs R, Meola G, McManis P, Barohn R, Mendell J, Harris C, Spitzer R, Santiago F (1994). Sodium channel mutations in acetazolamide-responsive myotonia congenita, paramyotonia congenita, and hyperkalemic periodic paralysis. Neurology. 44 (8): 1500—3. doi:10.1212/wnl.44.8.1500. PMID 8058156.
McClatchey A, McKenna-Yasek D, Cros D, Worthen H, Kuncl R, DeSilva S, Cornblath D, Gusella J, Brown R (1992). Novel mutations in families with unusual and variable disorders of the skeletal muscle sodium channel. Nat Genet. 2 (2): 148—52. doi:10.1038/ng1092-148. PMID 1338909.
Bouhours M, Luce S, Sternberg D, Willer J, Fontaine B, Tabti N (2005). A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. J Physiol. 565 (Pt 2): 415—27. doi:10.1113/jphysiol.2004.081018. PMC 1464511. PMID 15790667.
McClatchey A, Van den Bergh P, Pericak-Vance M, Raskind W, Verellen C, McKenna-Yasek D, Rao K, Haines J, Bird T, Brown R (1992). Temperature-sensitive mutations in the III-IV cytoplasmic loop region of the skeletal muscle sodium channel gene in paramyotonia congenita. Cell. 68 (4): 769—74. doi:10.1016/0092-8674(92)90151-2. PMID 1310898.
Lerche H, Heine R, Pika U, George A, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M (1993). Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 470: 13—22. doi:10.1113/jphysiol.1993.sp019843. PMC 1143902. PMID 8308722.
Bouhours M, Sternberg D, Davoine C, Ferrer X, Willer J, Fontaine B, Tabti N (2004). Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol. 554 (Pt 3): 635—47. doi:10.1113/jphysiol.2003.053082. PMC 1664790. PMID 14617673.
Ptacek L, Gouw L, Kwieciński H, McManis P, Mendell J, Barohn R, George A, Barchi R, Robertson M, Leppert M (1993). Sodium channel mutations in paramyotonia congenita and hyperkalemic periodic paralysis. Ann Neurol. 33 (3): 300—7. doi:10.1002/ana.410330312. PMID 8388676.
Wagner S, Lerche H, Mitrovic N, Heine R, George A, Lehmann-Horn F (1997). A novel sodium channel mutation causing a hyperkalemic paralytic and paramyotonic syndrome with variable clinical expressivity. Neurology. 49 (4): 1018—25. doi:10.1212/wnl.49.4.1018. PMID 9339683.
Okuda S, Kanda F, Nishimoto K, Sasaki R, Chihara K (2001). Hyperkalemic periodic paralysis and paramyotonia congenita--a novel sodium channel mutation. J Neurol. 248 (11): 1003—4. doi:10.1007/s004150170059. PMID 11757950.
Ptácek L, George A, Barchi R, Griggs R, Riggs J, Robertson M, Leppert M (1992). Mutations in an S4 segment of the adult skeletal muscle sodium channel cause paramyotonia congenita. Neuron. 8 (5): 891—7. doi:10.1016/0896-6273(92)90203-P. PMID 1316765.
Meyer-Kleine C, Otto M, Zoll B, Koch M (1994). Molecular and genetic characterization of German families with paramyotonia congenita and demonstration of founder effect in the Ravensberg families. Hum Genet. 93 (6): 707—10. doi:10.1007/BF00201577. PMID 8005599.
Lerche H, Mitrovic N, Dubowitz V, Lehmann-Horn F (1996). Paramyotonia congenita: the R1448P Na+ channel mutation in adult human skeletal muscle. Ann Neurol. 39 (5): 599—608. doi:10.1002/ana.410390509. PMID 8619545.
Bendahhou S, Cummins T, Kwiecinski H, Waxman S, Ptácek L (1999). Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol. 518 (2): 337—44. doi:10.1111/j.1469-7793.1999.0337p.x. PMC 2269438. PMID 10381583.
Sasaki R, Takano H, Kamakura K, Kaida K, Hirata A, Saito M, Tanaka H, Kuzuhara S, Tsuji S (1999). A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg. Arch Neurol. 56 (6): 692—6. doi:10.1001/archneur.56.6.692. PMID 10369308.
Lehmann-Horn F, Rüdel R, Ricker K (1993). Non-dystrophic myotonias and periodic paralyses. A European Neuromuscular Center Workshop held 4–6 October 1992, Ulm, Germany. Neuromuscul Disord. 3 (2): 161—8. doi:10.1016/0960-8966(93)90009-9. PMID 7689382.
Lehmann-Horn F, Rüdel R, Ricker K, Lorković H, Dengler R, Hopf H (1983). Two cases of adynamia episodica hereditaria: in vitro investigation of muscle cell membrane and contraction parameters. Muscle Nerve. 6 (2): 113—21. doi:10.1002/mus.880060206. PMID 6304507.
Fontaine B, Khurana T, Hoffman E, Bruns G, Haines J, Trofatter J, Hanson M, Rich J, McFarlane H, Yasek D (1990). Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science. 250 (4983): 1000—2. doi:10.1126/science.2173143. PMID 2173143.
Rojas C, Wang J, Schwartz L, Hoffman E, Powell B, Brown R (1991). A Met-to-Val mutation in the skeletal muscle Na+ channel alpha-subunit in hyperkalaemic periodic paralysis. Nature. 354 (6352): 387—9. doi:10.1038/354387a0. PMID 1659668.
Heine R, Pika U, Lehmann-Horn F (1993). A novel SCN4A mutation causing myotonia aggravated by cold and potassium. Hum Mol Genet. 2 (9): 1349—53. doi:10.1093/hmg/2.9.1349. PMID 8242056.
Kelly P, Yang W, Costigan D, Farrell M, Murphy S, Hardiman O (1997). Paramyotonia congenita and hyperkalemic periodic paralysis associated with a Met 1592 Val substitution in the skeletal muscle sodium channel alpha subunit--a large kindred with a novel phenotype. Neuromuscul Disord. 7 (2): 105—11. doi:10.1016/S0960-8966(96)00429-4. PMID 9131651.
Wu F, Gordon E, Hoffman E, Cannon S (2005). A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation. J Physiol. 565 (Pt 2): 371—80. doi:10.1113/jphysiol.2005.082909. PMC 1464529. PMID 15774523.
Vicart S, Sternberg D, Fontaine B, Meola G (2005). Human skeletal muscle sodium channelopathies. Neurol Sci. 26 (4): 194—202. doi:10.1007/s10072-005-0461-x. PMID 16193245.
Subramony S, Malhotra C, Mishra S (1983). Distinguishing paramyotonia congenita and myotonia congenita by electromyography. Muscle Nerve. 6 (5): 374—9. doi:10.1002/mus.880060506. PMID 6888415.
Streib E; Lane, Russell J. M.; Turnbull, Douglass M.; Hudgson, Peter; Walton, John; Brumback, Roger A.; Gerst, Jeffery W.; Heckmatt, John Z. та ін. (1984). Evoked response testing in myotonic syndromes. Muscle Nerve. 7 (7): 590—2. doi:10.1002/mus.880070709. PMID 6544373.

ncbi.nlm.nih.gov

Cannon S, Brown R, Corey D (1993). Theoretical reconstruction of myotonia and paralysis caused by incomplete inactivation of sodium channels. Biophys J. 65 (1): 270—88. doi:10.1016/S0006-3495(93)81045-2. PMC 1225722. PMID 8396455.
Kim J, Hahn Y, Sohn E, Lee Y, Yun J, Kim J, Chung J (2001). Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry. 70 (5): 618—23. doi:10.1136/jnnp.70.5.618. PMC 1737343. PMID 11309455.
Brancati F, Valente E, Davies N, Sarkozy A, Sweeney M, LoMonaco M, Pizzuti A, Hanna M, Dallapiccola B (2003). Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A. J Neurol Neurosurg Psychiatry. 74 (9): 1339—41. doi:10.1136/jnnp.74.9.1339. PMC 1738672. PMID 12933953.
Bouhours M, Luce S, Sternberg D, Willer J, Fontaine B, Tabti N (2005). A1152D mutation of the Na+ channel causes paramyotonia congenita and emphasizes the role of DIII/S4-S5 linker in fast inactivation. J Physiol. 565 (Pt 2): 415—27. doi:10.1113/jphysiol.2004.081018. PMC 1464511. PMID 15790667.
Lerche H, Heine R, Pika U, George A, Mitrovic N, Browatzki M, Weiss T, Rivet-Bastide M, Franke C, Lomonaco M (1993). Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker. J Physiol. 470: 13—22. doi:10.1113/jphysiol.1993.sp019843. PMC 1143902. PMID 8308722.
Bouhours M, Sternberg D, Davoine C, Ferrer X, Willer J, Fontaine B, Tabti N (2004). Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans. J Physiol. 554 (Pt 3): 635—47. doi:10.1113/jphysiol.2003.053082. PMC 1664790. PMID 14617673.
Bendahhou S, Cummins T, Kwiecinski H, Waxman S, Ptácek L (1999). Characterization of a new sodium channel mutation at arginine 1448 associated with moderate Paramyotonia congenita in humans. J Physiol. 518 (2): 337—44. doi:10.1111/j.1469-7793.1999.0337p.x. PMC 2269438. PMID 10381583.
Wu F, Gordon E, Hoffman E, Cannon S (2005). A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation. J Physiol. 565 (Pt 2): 371—80. doi:10.1113/jphysiol.2005.082909. PMC 1464529. PMID 15774523.

web.archive.org

Facts About Myopathies | MDA Publications [Архівовано 2007-08-05 у Wayback Machine.]