Congenital muscular dystrophy with secondary merosin deficiency and normal brain MRI: a novel entity?

Neuropediatrics. 2000 Aug;31(4):186-9. doi: 10.1055/s-2000-7460.


We describe two Scottish siblings affected by a form of congenital muscular dystrophy characterised by a severe clinical phenotype, similar to that observed in the 6q-linked merosin-deficient CMD but in whom brain MRI and cognitive development were normal. The maximal function achieved in the 2 siblings was sitting independently. Serum CK were grossly elevated and the skin and muscle biopsies showed a severe reduction of merosin in both. The normal brain MRI and normal cognitive development distinguish this form from Fukuyama congenital muscular dystrophy, muscle-eye-brain disease or other forms of CMD with secondary partial merosin deficiency and abnormal brain MRI and/or mental retardation. Linkage analysis excluded all the known loci for CMD. We propose that this may represent a novel variant of CMD.

Publication types

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

MeSH terms

  • Biopsy
  • Brain / anatomy & histology*
  • Child, Preschool
  • DNA Primers / genetics
  • Diagnosis, Differential
  • Female
  • Genetic Markers
  • Humans
  • Infant
  • Laminin / deficiency*
  • Laminin / metabolism
  • Magnetic Resonance Imaging*
  • Male
  • Muscle, Skeletal / pathology
  • Muscular Dystrophies* / congenital
  • Muscular Dystrophies* / diagnosis
  • Muscular Dystrophies* / genetics
  • Muscular Dystrophies* / metabolism
  • Polymerase Chain Reaction


  • DNA Primers
  • Genetic Markers
  • Laminin