Nondystrophinopathic muscular dystrophies including myotonic dystrophy

Semin Pediatr Neurol. 1996 Jun;3(2):110-21. doi: 10.1016/s1071-9091(96)80040-4.

Abstract

The spectacular progress concerning dystrophin and its pathology, the dystrophinopathies, has led to a somewhat arbitrarily separated heterogeneous group of nondystrophinopathic muscular dystrophies that currently comprise the Emery-Dreifuss type, the nosologically heterogeneous autosomal-recessive limb-girdle muscular dystrophy, the severe childhood autosomal-recessive muscular dystrophy, the merosin-positive and -negative congenital muscular dystrophies, the autosomal-recessive distal muscular dystrophy of Miyoshi, the facio-scapulo-humeral muscular dystrophy, and myotonic dystrophy, both the adult and neonatal variants. Deficiencies of adhalin in a particular form of limb-girdle muscular dystrophy, and of merosin in a particular form of congenital muscular dystrophy as well as the newly discovered principle of abnormal tri-nucleotide repeats in myotonic dystrophy are evidence of progress that has also amplified the notion of the dystrophinopathies that the protein-deficient muscular dystrophies can now be considered examples of contributions of the dystrophin-glycoprotein complex across the muscle fiber plasma membrane.

Publication types

  • Review

MeSH terms

  • Adolescent
  • Adult
  • Brain / pathology
  • Child
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Dystrophin / genetics*
  • Female
  • Genes, Recessive / genetics
  • Genetic Linkage
  • Humans
  • Infant
  • Infant, Newborn
  • Laminin / genetics
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies / classification
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics*
  • Myotonic Dystrophy / classification
  • Myotonic Dystrophy / diagnosis
  • Myotonic Dystrophy / genetics*
  • Pregnancy
  • Syndrome
  • X Chromosome

Substances

  • Dystrophin
  • Laminin