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Clinical, pathological, and genetic features of dynamin-2-related centronuclear myopathy in China.

Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology - 1 May 2015

Chen Ting, Pu Chuanqiang, Wang Qian, Liu Jiexiao, Mao Yanling, Shi Qiang

Abstract excerpt

Mutations in the dynamin-2 (DNM2) gene can cause autosomal dominant or sporadic centronuclear myopathy (CNM). We aimed to analyze the clinical, pathological and genetic characteristic of patients with DNM2-related CNM in China. We studied seven patients, all of whom underwent clinical examination, muscle biopsy, electromyography, and genetic tests. DNM2 gene analysis revealed two sporadic patients harboring the...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 25501959
DOI: 10.1007/s10072-014-2028-6

Genes

DNM2

Variants

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