Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Targeted Next-Generation Sequencing Reveals Mutations in Non-coding Regions and Potential Regulatory Sequences of Calpain-3 Gene in Polish Limb–Girdle Muscular Dystrophy Patients

Limb–girdle muscular dystrophy type R1 (LGMDR1) is caused by mutations in CAPN3 and is the most common type of recessive LGMD. Even with the use of whole-exome sequencing (WES), only one mutant allele of CAPN3 is found in a significant number of LGMDR patients. This points to a role of non-coding, i...

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Bibliographic Details
Main Authors: Anna Macias, Jakub Piotr Fichna, Malgorzata Topolewska, Maria J. Rȩdowicz, Anna M. Kaminska, Anna Kostera-Pruszczyk
Format: Article
Language:English
Published: Frontiers Media S.A. 2021-10-01
Series:Frontiers in Neuroscience
Subjects:
LGMD
CAPN3
non-coding
enhancer
silencer
calpain-3
Online Access:https://www.frontiersin.org/articles/10.3389/fnins.2021.692482/full

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