A novel start codon variant in SMCHD1 from a Chinese family causes facioscapulohumeral muscular dystrophy type 2

Chin Med J (Engl). 2021 Mar 23;134(22):2753-2755. doi: 10.1097/CM9.0000000000001425.
No abstract available

Publication types

  • Letter

MeSH terms

  • China
  • Chromosomal Proteins, Non-Histone
  • Codon, Initiator
  • Humans
  • Muscular Dystrophy, Facioscapulohumeral* / genetics
  • Phenotype

Substances

  • Chromosomal Proteins, Non-Histone
  • Codon, Initiator
  • SMCHD1 protein, human