[Bethlem myopathy: when the phenotype is misleading]

Rev Neurol. 2020 Sep 16;71(6):234-235. doi: 10.33588/rn.7106.2020128.
[Article in Spanish]

Abstract

Miopatía de Bethlem: cuando el fenotipo confunde.

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adipose Tissue / diagnostic imaging
  • Adipose Tissue / pathology
  • Adult
  • Age of Onset
  • Amino Acid Substitution
  • Collagen Type VI / genetics
  • Contracture / complications
  • Contracture / diagnosis*
  • Contracture / genetics
  • Heterozygote
  • Humans
  • Magnetic Resonance Imaging
  • Male
  • Muscle Weakness / etiology
  • Muscular Atrophy / diagnostic imaging
  • Muscular Atrophy / etiology
  • Muscular Dystrophies / complications
  • Muscular Dystrophies / congenital*
  • Muscular Dystrophies / diagnosis
  • Muscular Dystrophies / genetics
  • Mutation, Missense
  • Phenotype
  • Point Mutation
  • Talipes Cavus / genetics

Substances

  • COL6A3 protein, human
  • Collagen Type VI

Supplementary concepts

  • Bethlem myopathy