Congenital generalized lipodystrophy type 4 with muscular dystrophy: clinical and pathological manifestations in early childhood

Neuromuscul Disord. 2013 May;23(5):441-4. doi: 10.1016/j.nmd.2013.02.005. Epub 2013 Mar 13.


A boy with congenital generalized lipodystrophy type 4 with muscular dystrophy presented in infancy with delay in motor milestones and a persistent elevation of CK. There was no associated mental retardation. He was followed up to 3 years and 11 months; he had a homozygous c.696_697insC mutation in polymerase I and transcript release factor (PTRF). He started to walk at 2 years and 6 months although he did not have mental retardation. Insulin resistance appeared at 3 years and 11 months of age. PTRF immunostaining positivity was absent in the muscle but caveolin-3 was preserved in the sarcolemma at 16 months of age. Secondary deficiency of caveolins may be closely associated with disease progression.

Publication types

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

MeSH terms

  • Caveolin 3 / genetics
  • Child, Preschool
  • Genetic Predisposition to Disease
  • Humans
  • Insulin Resistance / genetics*
  • Lipodystrophy, Congenital Generalized / complications
  • Lipodystrophy, Congenital Generalized / diagnosis
  • Lipodystrophy, Congenital Generalized / genetics*
  • Male
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology*
  • Mutation / genetics*
  • Sarcolemma / genetics
  • Sarcolemma / pathology


  • Caveolin 3