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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Detalles Bibliográficos
Autores principales: 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: Online Artículo Texto
Lenguaje:English
Publicado: Wolters Kluwer 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105884/
https://www.ncbi.nlm.nih.gov/pubmed/33977145
http://dx.doi.org/10.1212/NXG.0000000000000589

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8105884/
https://www.ncbi.nlm.nih.gov/pubmed/33977145
http://dx.doi.org/10.1212/NXG.0000000000000589

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