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...

Descripció completa

Guardat en:
Dades bibliogràfiques
Publicat a:Neurol Genet
Autors principals: 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.
Format: Artigo
Idioma:Inglês
Publicat: Wolters Kluwer 2021
Matèries:
Article
Accés en línia: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
Etiquetes: Afegir etiqueta
Sense etiquetes, Sigues el primer a etiquetar aquest registre!

Ítems similars