Limb-Girdle Muscular Dystrophies

Research output: Chapter in Book/Report/Conference proceedingChapter

1 Scopus citations


Molecular and genetic breakthroughs continue to explode our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the more than 25 genes underlying these genetic muscle diseases lead to substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory, and biopsy features often help to distinguish among them. Treatment remains predominantly supportive with excitement surrounding the genetic-based therapies.

Original languageEnglish (US)
Title of host publicationEncyclopedia of the Neurological Sciences
PublisherElsevier Inc.
Number of pages7
ISBN (Electronic)9780123851574
ISBN (Print)9780123851581
StatePublished - Jan 1 2014
Externally publishedYes


  • Anoctamin
  • Calpain
  • Caveolin
  • Creatine kinase
  • Dysferlin
  • Fukutin-related protein
  • Lamin A/C
  • Limb-Girdle muscular dystrophy
  • Muscle biopsy
  • Sarcoglycan
  • Telethonin
  • Titin
  • α-Dystroglycan

ASJC Scopus subject areas

  • General Medicine


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