A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

doi:10.1016/j.nmd.2015.03.002

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Article

A comprehensive genetic diagnosis of Chinese muscular dystrophy and congenital myopathy patients by targeted next-generation sequencing.

Neuromuscular disorders : NMD - 1 Aug 2015

Dai Yi, Wei Xiaoming, Zhao Yanhuan, Ren Haitao, Lan Zhangzhang, Yang Yun, Chen Lin, Cui Liying

Abstract excerpt

Muscular dystrophies and congenital myopathies are a large group of heterogeneous inherited muscle disorders. The spectrum of muscular dystrophies and congenital myopathies extends to more than 50 diseases today, even excluding the common forms Duchenne Muscular Dystrophy, Myotonic Dystrophy and Facioscapulohumeral Dystrophy. Unfortunately, even by critical clinical evaluation and muscle pathology, diagnosis is...

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PMID: 25987458
DOI: 10.1016/j.nmd.2015.03.002

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