Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

Neuromuscul Disord. 1996 Dec;6(6):455-62. doi: 10.1016/s0960-8966(96)00386-0.

Abstract

The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Animals
  • Calpain / genetics*
  • Chromosome Mapping
  • Chromosomes, Human, Pair 15
  • Cloning, Molecular
  • Cytoskeletal Proteins / genetics*
  • Disease Progression
  • Dystroglycans
  • Genes, Recessive*
  • Genetic Heterogeneity
  • Humans
  • Membrane Glycoproteins / genetics*
  • Mice
  • Muscles / enzymology*
  • Muscular Dystrophies / genetics*
  • Muscular Dystrophies / pathology
  • Organ Specificity

Substances

  • Cytoskeletal Proteins
  • DAG1 protein, human
  • Membrane Glycoproteins
  • Dystroglycans
  • Calpain