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

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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Bibliographic Details
Main Authors: Qian Chen, Wen Zheng, Hongbo Xu, Yan Yang, Zhi Song, Lamei Yuan, Hao Deng
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-03-01
Series:Frontiers in Neuroscience
Subjects:
limb-girdle muscular dystrophies
digenic variants
the TTN gene
the TRAPPC11 gene
exome sequencing
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2021.601757/full

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