A Double Mutation of the Ryanodine Receptor Type 1 Gene in a Malignant Hyperthermia Family with Multiminicore Myopathy

BACKGROUND AND PURPOSE: At least 100 Ryanodine receptor type 1 (RYR1) mutations associated with malignant hyperthermia (MH) and central core disease (CCD) have been identified, but 2 RYR1 mutations accompanying multiminicore myopathy in an MH and/or CCD family have been reported only rarely. METHODS...

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Detalles Bibliográficos
Autores principales: Jeong, Seul-Ki, Kim, Dong-Chan, Cho, Yong-Gon, Sunwoo, Il-Nam, Kim, Dal-Sik
Formato: Texto
Lenguaje:English
Publicado: Korean Neurological Association 2008
Materias:
Original Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686874/
https://www.ncbi.nlm.nih.gov/pubmed/19513315
http://dx.doi.org/10.3988/jcn.2008.4.3.123

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2686874/
https://www.ncbi.nlm.nih.gov/pubmed/19513315
http://dx.doi.org/10.3988/jcn.2008.4.3.123

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