Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle-Reference-Cited by-同舟云学术

Permanent myopathy caused by mutation of SCN4A Metl592Val: Observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle

Published:2009-03-24 Issue:2 Volume:25 Page:61-66
ISSN:1673-7067
Container-title:Neuroscience Bulletin
language:en
Short-container-title:Neurosci. Bull.

Author:

Feng Yu,Wang Hong,Luo Xiao-Guang,Ren Yan

Publisher

Springer Science and Business Media LLC

Subject

General Medicine,Physiology,General Neuroscience

Link

http://link.springer.com/content/pdf/10.1007/s12264-009-0926-2.pdf

Reference14 articles.

1. Kim J, Hahn Y, Sohn EH, Lee YJ, Yun JH, Kim JM, et al. Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica. J Neurol Neurosurg Psychiatry 2001, 70: 618–623.

2. Kelly P, Yang WS, Costigan D, Farrell MA, Murphy S, Hardiman O. Paramyotonia congenital and hyperkalemic periodic paralysis associated with a Met1592Val substitution in the skeletal muscle sodium channel alpha subunit-a large kindred with a novel phenotype. Neuromuscular Disord 1997, 7: 105–111.

3. Bradley WG, Taylor R, Rice DR, Hausmanowa-Petruzewicz I, Adelman LS, Jenkison M, et al. Progressive myopathy in hyperkalemic periodic paralysis. Arch Neuro 1990, 47: 1013–1017.

4. MacDonald RD, Rewcastle NB, Humphrey JG. The myopathy of hyperkalemic periodic paralysis an electron microscopic study. Arch Neurol 1968, 19: 274–283.

5. Feng Y, Wang H, Liu ZL, Zhang CD. A paralysis periodica paramytonia family: clinical and molecular genetic studies. Chin J Neurol 2009, 42:152–156

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3. A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness;Muscle & Nerve;2013-06-26

4. Long-term effectiveness of acetazolamide on permanent weakness in hyperkalemic periodic paralysis;Neuromuscular Disorders;2013-05