Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Whole-exome sequencing identifies novel pathogenic mutations and putative phenotype-influencing variants in Polish limb-girdle muscular dystrophy patients

Abstract Background Limb girdle muscular dystrophies (LGMD) are a group of heterogeneous hereditary myopathies with similar clinical symptoms. Disease onset and progression are highly variable, with an elusive genetic background, and around 50% cases lacking molecular diagnosis. Methods Whole exome...

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Bibliographic Details
Main Authors: Jakub Piotr Fichna, Anna Macias, Marcin Piechota, Michał Korostyński, Anna Potulska-Chromik, Maria Jolanta Redowicz, Cezary Zekanowski
Format: Article
Language:English
Published: BMC 2018-07-01
Series:Human Genomics
Subjects:
Limb-girdle muscular dystrophy
LGMD
Skeletal muscle
Exome
Next generation sequencing
NGS
Online Access:http://link.springer.com/article/10.1186/s40246-018-0167-1

Internet

http://link.springer.com/article/10.1186/s40246-018-0167-1

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