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Facioscapulohumeral Muscular Dystrophy: Genetics

  1. Meena Upadhyaya

Published Online: 28 SEP 2007

DOI: 10.1002/9780470015902.a0005915.pub2

eLS

eLS

How to Cite

Upadhyaya, M. 2007. Facioscapulohumeral Muscular Dystrophy: Genetics. eLS. .

Author Information

  1. Cardiff University, Institute of Medical Genetics, Cardiff, UK

Publication History

  1. Published Online: 28 SEP 2007

Abstract

Facioscapulohumeral muscular dystrophy (FSHD) is an enigmatic inherited disorder, while the disease locus for this condition was mapped some 17 years ago and the mutations associated with the disease are known, the exact identity of the FSHD gene remains elusive.

Keywords:

  • FSHD;
  • D4Z4 repeats;
  • genomic rearrangements;
  • mosaicism;
  • epigenetic;
  • nuclear localization