articleNature GeneticsNov 11, 2012Closed access

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

RJRichard J.L.F. LemmersRTRabi TawilLMLisa M. PetekJBJudit BalogGJGregory J. Block

Leiden University Medical Center · University of Rochester Medical Center · +10 more institutions

PubMed
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Topics & keywords

Topics
Keywords
  • Facioscapulohumeral muscular dystrophy
  • Biology
  • Genetics
  • Epigenetics
  • Muscular dystrophy
  • Subtelomere
  • Chromatin
  • Chromosome
UN Sustainable Development Goals
  • Good health and well-being
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