Biallelic Pathogenic Variants in TNNT3 Associated With Congenital Myopathy

OBJECTIVE: Pathogenic variants in TNNT3, the gene encoding fast skeletal muscle troponin T, were first described in autosomal dominant distal arthrogryposis type 2B2. Recently, a homozygous splice site variant, c.681+1G>A, was identified in a patient with nemaline myopathy and distal arthrogrypos...

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Detalhes bibliográficos
Publicado no:Neurol Genet
Main Authors: Calame, Daniel G., Fatih, Jawid, Herman, Isabella, Akdemir, Zeynep Coban, Du, Haowei, Jhangiani, Shalini N., Gibbs, Richard A., Marafi, Dana, Pehlivan, Davut, Posey, Jennifer E., Lotze, Timothy, Mancias, Pedro, Bhattacharjee, Meenakshi Bidwai, Lupski, James R.
Formato: Artigo
Idioma:Inglês
Publicado em: Wolters Kluwer 2021
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Article
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8105884/
https://ncbi.nlm.nih.gov/pubmed/33977145
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1212/NXG.0000000000000589
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