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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Bibliografiska uppgifter
I publikationen:Neurol Genet
Huvudupphovsmän: 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.
Materialtyp: Artigo
Språk:Inglês
Publicerad: Wolters Kluwer 2021
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Article
Länkar: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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