A novel bi-allelic loss-of-function variant in MYOD1: Further evidence for gene-disease association and phenotypic variability in MYOD1-related myopathy

Clin Genet. 2019 Sep;96(3):276-277. doi: 10.1111/cge.13596. Epub 2019 Jul 10.
No abstract available

Publication types

  • Letter

MeSH terms

  • Alleles*
  • Biological Variation, Population*
  • Consanguinity
  • DNA Mutational Analysis
  • Humans
  • Loss of Function Mutation*
  • Muscular Diseases / diagnosis*
  • Muscular Diseases / genetics*
  • MyoD Protein / genetics*
  • Phenotype*
  • Radiography

Substances

  • MyoD Protein
  • MyoD1 myogenic differentiation protein