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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Detalles Bibliográficos
Autores principales: Macias, Anna, Fichna, Jakub Piotr, Topolewska, Malgorzata, Rȩdowicz, Maria J., Kaminska, Anna M., Kostera-Pruszczyk, Anna
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Neuroscience
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8551377/
https://www.ncbi.nlm.nih.gov/pubmed/34720847
http://dx.doi.org/10.3389/fnins.2021.692482

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