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Article

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

International journal of clinical and experimental pathology - 1 Jan 2015

Xu Changshui, Qi Junjia, Shi Yingying, Feng Yan, Zang Weizhou, Zhang Jiewen

Abstract excerpt

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 and cold provocation were further tested to diagnose the clinical differentiation. All members shared the...

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PMID: 25755818
PMCID: PMC4348932

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