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.
Authors
Liang-Liang Qiu
1
,
Xiao-Dan Lin
1
,
Guo-Rong Xu
1
,
Li-Li Wang
1
,
Zhi-Xian Ye
1
,
Feng Lin
1
,
Hai-Zhu Chen
1
,
Min-Ting Lin
1
2
,
Nai-Qing Cai
1
,
Ming Jin
1
,
Liu-Qing Xu
1
,
Wei Hu
1
,
Ning Wang
1
2
,
Zhi-Qiang Wang
1
2
Affiliations
1
Department of Neurology, Institute of Neurology, The First Affiliated Hospital, Fujian Medical University, Fuzhou, Fujian 350005, China.
2
Fujian Key Laboratory of Molecular Neurology, Fuzhou, Fujian 350005, China.
PMID:
34845997
PMCID:
PMC8631385
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