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Article

Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.

Journal of cellular and molecular medicine - 1 Jul 2017

Hu Pengzhi, Wu Song, Yuan Lamei, Lin Qiongfen, Zheng Wen, Xia Hong, Xu Hongbo, Guan Liping, Deng Hao

Abstract excerpt

Muscular dystrophy-dystroglycanopathy (MDDG) is a genetically and clinically heterogeneous group of muscular disorders, characterized by congenital muscular dystrophy or later-onset limb-girdle muscular dystrophy accompanied by brain and ocular abnormalities, resulting from aberrant alpha-dystroglycan glycosylation. Exome sequencing and Sanger sequencing were performed on a six-generation consanguineous Han...

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Source

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Identifiers

PMID: 28157257
DOI: 10.1111/jcmm.13068
PMCID: PMC5487925

Genes

POMT1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Compound heterozygous POMT1 mutations in a Chinese family with autosomal recessive muscular dystrophy-dystroglycanopathy C1.PMID 28157257Read ↗

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