A patient with mutation in the SCN4A p.M1592v presenting with fixed weakness, rhabdomyolysis, and episodic worsening of weakness

Muscle and Nerve

Volumn 48, Issue 2, 2013, Pages 306-307

  Lee, Eric ^a   Chahin, Nizar ^a  

^a UNIVERSITY OF NORTH CAROLINA SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

SODIUM CHANNEL NAV1.4;

CASE REPORT; CHILD; CHROMOSOME MUTATION; COLD; ELECTROMYOGRAPHY; EMOTIONAL STRESS; EXERCISE; FAMILY HISTORY; FEMALE; HUMAN; INFECTION; LETTER; MOTOR UNIT POTENTIAL; MUSCLE BIOPSY; MUSCLE HYPERTROPHY; MUSCLE WEAKNESS; MYOPATHY; MYOTONIA; PERIODIC PARALYSIS; PRIORITY JOURNAL; RHABDOMYOLYSIS; SCHOOL CHILD; SODIUM CHANNELOPATHY; THENAR;

CHILD; FAMILY HEALTH; FEMALE; HUMANS; MALE; MUSCLE WEAKNESS; MUTATION; NAV1.4 VOLTAGE-GATED SODIUM CHANNEL; RHABDOMYOLYSIS;

EID: 84881022780     PISSN: 0148639X     EISSN: 10974598     Source Type: Journal    
DOI: 10.1002/mus.23803     Document Type: Letter

References (5)

1. Jurkat-Rott K, Lehmann-Horn F. Hyperkalemic Periodic Paralysis Type 1. GeneReviews. Seattle, WA: University of Washington.
2. Matthews E, Miller JA, MacLeod MR, Ironside J, Ambler G, Labrum R, et al. Sodium and chloride channelopathies with myositis: coincidence or connection? Muscle Nerve 2011;44:283-288.
3. Ptácek LJ, George AL Jr, Griggs RC, Tawil R, Kallen RG, Barchi RL, et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991;67:1021-1027.
4. Hayward LJ, Kim JS, Lee MY, Zhou H, Kim JW, Misra K, et al. Targeted mutation of mouse skeletal muscle sodium channel produces myotonia and potassium-sensitive weakness. J Clin Invest 2008;118:1437-1449.
5. Feng Y, Wang H, Luo X-G, Ren Y. Permanent myopathy caused by mutation of SCN4A Metl592Val: observation on myogenesis in vitro and on effect of basic fibroblast growth factor on the muscle. Neurosci Bull 2009;25:61-66.