A novel gamma-sarcoglycan mutation causing childhood onset, slowly progressive limb girdle muscular dystrophy

Neuromuscul Disord. 1998 Jun;8(5):305-8. doi: 10.1016/s0960-8966(98)00040-6.

Abstract

Limb girdle muscular dystrophy is a heterogeneous group of disorders. One autosomal recessive subtype, LGMD2C, has been linked to chromosome 13, and is caused by gamma-sarcoglycan deficiency in muscle. This report describes a novel missense mutation identified in a large consanguineous Dutch family with LGMD. This mutation leads to reduction of gamma-sarcoglycan, and gives rise to a childhood-onset, slowly-progressive dystrophy.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Child
  • Cytoskeletal Proteins / deficiency
  • Cytoskeletal Proteins / genetics*
  • Cytoskeletal Proteins / metabolism
  • Disease Progression
  • Dystrophin / genetics*
  • Dystrophin / metabolism
  • Electromyography
  • Extremities / diagnostic imaging
  • Extremities / physiopathology*
  • Female
  • Genetic Linkage
  • Humans
  • Immunohistochemistry
  • Membrane Glycoproteins / deficiency
  • Membrane Glycoproteins / genetics*
  • Membrane Glycoproteins / metabolism
  • Microsatellite Repeats
  • Muscle, Skeletal / metabolism
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / diagnostic imaging
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / metabolism
  • Muscular Dystrophies / physiopathology
  • Mutation*
  • Netherlands
  • Pedigree
  • Sarcoglycans
  • Tomography, X-Ray Computed

Substances

  • Cytoskeletal Proteins
  • Dystrophin
  • Membrane Glycoproteins
  • Sarcoglycans