LGMD2L with bone affection: overlapping phenotype of dominant and recessive ANO5-induced disease

Muscle Nerve. 2012 Nov;46(5):829-30. doi: 10.1002/mus.23440.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Anoctamins
  • Bone Diseases, Developmental / diagnosis*
  • Bone Diseases, Developmental / genetics*
  • Chloride Channels / genetics*
  • Creatine Kinase / genetics
  • Genes, Dominant / genetics*
  • Genes, Recessive / genetics*
  • Humans
  • Male
  • Muscular Dystrophies, Limb-Girdle / genetics*
  • Phenotype*
  • Young Adult

Substances

  • ANO5 protein, human
  • Anoctamins
  • Chloride Channels
  • Creatine Kinase

Supplementary concepts

  • Muscular Dystrophy, Limb-Girdle, Type 2L