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Digenic Variants in the TTN and TRAPPC11 Genes Co-segregating With a Limb-Girdle Muscular Dystrophy in a Han Chinese Family

Limb-girdle muscular dystrophies (LGMD) are hereditary genetic disorders characterized by progressive muscle impairment which predominantly include proximal muscle weaknesses in the pelvic and shoulder girdles. This article describes an attempt to identify genetic cause(s) for a LGMD pedigree via a...

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Detalles Bibliográficos
Autores principales: Chen, Qian, Zheng, Wen, Xu, Hongbo, Yang, Yan, Song, Zhi, Yuan, Lamei, Deng, Hao
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7969792/
https://www.ncbi.nlm.nih.gov/pubmed/33746696
http://dx.doi.org/10.3389/fnins.2021.601757