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Phenotypic variation of Val1589Met mutation in a four-generation Chinese pedigree with mild paramyotonia congenitia: case report

Four generations of a Chinese family with a mild form of paramyotonia congenital was characterized in phenotype and genotype. For each member, clinical history, physical examination, laboratory tests, electrophysiological and gene analyses were recorded and carried out. A potassium loading, exercise...

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Detalhes bibliográficos
Publicado no:Int J Clin Exp Pathol
Main Authors: Xu, Changshui, Qi, Junjia, Shi, Yingying, Feng, Yan, Zang, Weizhou, Zhang, Jiewen
Formato: Artigo
Idioma:Inglês
Publicado em: e-Century Publishing Corporation 2015
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC4348932/
https://ncbi.nlm.nih.gov/pubmed/25755818
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