Limb girdle muscular dystrophies

Samah K. Aburahma, Matthew P. Wicklund

Research output: Chapter in Book/Report/Conference proceedingChapter

Abstract

Molecular and genetic breakthroughs continue to amplify our knowledge of the limb-girdle muscular dystrophies. Despite a common, basic phenotype, the myriad of genes underlying these genetic muscle diseases bring about substantial heterogeneity in pathogenesis and clinical course. Distinctive clinical, laboratory and biopsy features often help distinguish amongst them. Treatment, previously predominantly supportive, is transforming toward disease modifying, gene-based therapins.

Original languageEnglish (US)
Title of host publicationThe Curated Reference Collection in Neuroscience and Biobehavioral Psychology
PublisherElsevier Science Ltd.
Pages890-896
Number of pages7
ISBN (Electronic)9780128093245
DOIs
StatePublished - Jan 1 2016
Externally publishedYes

Keywords

  • Alpha-dystroglycan
  • Anoctamin
  • Calpain
  • Caveolin
  • Creatine kinase
  • Dysferlin
  • Fukutin-related protein
  • Lamin A/C
  • Limb-girdle muscular dystrophy
  • Muscle biopsy
  • Sarcoglycan
  • Telethonin
  • Titin
  • Valosin containing protein

ASJC Scopus subject areas

  • General Medicine

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