[Neonatal hypotonias with congenital disproportion of various types of muscular fiber, especially type I fibers. Demonstration of the familial character of this new entity]

Arch Fr Pediatr. 1975 Dec;32(10):901-13.
[Article in French]

Abstract

Two sisters presenting with benign congenital hypotonia are reported. In both cases the muscle biopsies demonstrated the same pathological pattern, consisting in an abnormal size disproportion between the two main cytoenzymological types of muscle fibers. Their father, exhibiting a slight and diffuse muscle weakness, showed a closely related histological aspect. These three cases bring the first evidence of a familial transmission of this new entity. Its relationship with the other types of "congenital myopathies" is discussed.

Publication types

  • Case Reports
  • English Abstract

MeSH terms

  • Adult
  • Child, Preschool
  • Female
  • Humans
  • Infant
  • Infant, Newborn
  • Infant, Newborn, Diseases / pathology*
  • Male
  • Muscles / pathology
  • Muscular Diseases / genetics*
  • Muscular Diseases / pathology
  • Myofibrils / ultrastructure*