[Ullrich congenital muscular dystrophy. The usefulness of muscular magnetic resonance imaging in its diagnosis]

Rev Neurol. 2015 Jul 1;61(1):44-6.
[Article in Spanish]
No abstract available

Publication types

  • Case Reports
  • English Abstract
  • Letter

MeSH terms

  • Adiposity
  • Biopsy
  • Child
  • Collagen Type VI / genetics
  • Female
  • Fibrosis
  • Heterozygote
  • Humans
  • Introns / genetics
  • Magnetic Resonance Imaging*
  • Muscle, Skeletal / pathology*
  • Muscular Atrophy / etiology
  • Muscular Dystrophies / diagnosis*
  • Muscular Dystrophies / genetics
  • Muscular Dystrophies / pathology
  • Phenotype
  • Point Mutation
  • Sclerosis / diagnosis*
  • Sclerosis / genetics
  • Sclerosis / pathology

Substances

  • Col6a1 protein, human
  • Collagen Type VI

Supplementary concepts

  • Scleroatonic muscular dystrophy