A Novel
TTN
Gene Variant c.95136T>G (p.Cys31712Trp) and Associated Clinical Characteristics in a Family With Suspected Hereditary Myopathy With Early Respiratory Failure
Ann Lab Med
.
2021 Nov 1;41(6):604-607.
doi: 10.3343/alm.2021.41.6.604.
Authors
Yoomi Yeo
1
,
Jong Eun Park
2
,
Hyuk Sung Kwon
3
Affiliations
1
Department of Internal Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.
2
Department of Laboratory Medicine, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.
3
Department of Neurology, Hanyang University Guri Hospital, Hanyang University College of Medicine, Guri, Korea.
PMID:
34108290
PMCID:
PMC8203435
DOI:
10.3343/alm.2021.41.6.604
No abstract available
Publication types
Case Reports
Letter
MeSH terms
Connectin / genetics
Genetic Diseases, Inborn
Humans
Muscular Diseases*
Respiratory Insufficiency*
Substances
Connectin
TTN protein, human
Supplementary concepts
Hereditary Myopathy with Early Respiratory Failure