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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Xehetasun bibliografikoak
Argitaratua izan da:Neurol Genet
Egile Nagusiak: 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.
Formatua: Artigo
Hizkuntza:Inglês
Argitaratua: Wolters Kluwer 2021
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Article
Sarrera elektronikoa: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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