Digenic inheritance of an SMCHD1 mutation and an FSHD-permissive D4Z4 allele causes facioscapulohumeral muscular dystrophy type 2

NATURE GENETICS（2012）

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摘要

Silvère van der Maarel, Stephen Tapscott, Daniel Miller and colleagues show that digenic inheritance of a mutation in SMCHD1 and a chromosome 4 haplotype permissive for DUX4 mRNA polyadenylation causes fascioscapulohumeral dystrophy type 2.

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关键词

Disease genetics,Epigenetics,Musculoskeletal abnormalities,Biomedicine,general,Human Genetics,Cancer Research,Agriculture,Gene Function,Animal Genetics and Genomics

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