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

Highlights • A single-center prospective diagnostic study on inherited myopathy. • Using targeted next-generation sequencing technology. • 36 (65%) patients were found to have a causative mutation. • Disease distribution and mutation types in Chinese are different. • LMNA gene has some point mutatio...

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Veröffentlicht in:	Neuromuscular disorders : NMD 2015-08, Vol.25 (8), p.617-624
Hauptverfasser:	Dai, Yi, Wei, Xiaoming, Zhao, Yanhuan, Ren, Haitao, Lan, Zhangzhang, Yang, Yun, Chen, Lin, Cui, Liying
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Asian Continental Ancestry Group Child Child, Preschool China - epidemiology Chinese patients' features Congenital myopathy Female Humans Male Middle Aged Muscular Dystrophies - diagnosis Muscular Dystrophies - epidemiology Muscular Dystrophies - genetics Muscular dystrophy Mutation Myotonia Congenita - diagnosis Myotonia Congenita - epidemiology Myotonia Congenita - genetics Neurology Oligonucleotide Array Sequence Analysis Prospective diagnostic study Targeted next-generation sequencing Young Adult
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Beschreibung
Zusammenfassung:	Highlights • A single-center prospective diagnostic study on inherited myopathy. • Using targeted next-generation sequencing technology. • 36 (65%) patients were found to have a causative mutation. • Disease distribution and mutation types in Chinese are different. • LMNA gene has some point mutation hotspots.
ISSN:	0960-8966 1873-2364
DOI:	10.1016/j.nmd.2015.03.002