Article

Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophy

2022-09-16

Abstract excerpt

<title>Abstract</title> <p>Muscular dystrophy is a group of heterogeneous diseases that cause progressive muscle weakness and atrophy. Many types of muscular dystrophy is distinguished involving Duchenne/Becker, myotonic, limb-girdle, congenital, or facioscapulohumeral muscular dystrophies. Different molecular techniques, including next-generation sequencing (NGS) were performed to identify the genetic cause of P...

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Literature Corpus work: 7a79e131-1cc1-5bf0-8442-45db501886fa
DOI: 10.21203/rs.3.rs-2037349/v1

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Co-occurrence of CAPN3 homozygous mutation and CCTG expansion in the CNBP gene in a patient with muscular dystrophyDOI 10.21203/rs.3.rs-2037349/v1Read

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