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Clinical exome sequencing identifies novel compound heterozygous mutations of the POMT2 gene in patients with limb-girdle muscular dystrophy.

International journal of developmental neuroscience : the official journal of the International Society for Developmental Neuroscience - 1 Feb 2023

Zhao Xiangyu, Gao Chunhai, Li Lin, Jiang Liangqian, Wei Yuda, Che Fengyuan, Liu Qiji

Abstract excerpt

OBJECTIVE: Mutations in protein O-mannosyltransferase 2 (POMT2) (MIM#607439) have been identified in severe congenital muscular dystrophy such as Walker-Warburg syndrome (WWS) and milder limb-girdle muscular dystrophy type 2N (LGMD2N). The aim of this study is to investigate the genetic causes in patients with LGMD2N. METHODS: Three patients diagnosed with mild limb-girdle muscular dystrophy were recruited. The...

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PMID: 36217604
DOI: 10.1002/jdn.10233

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