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Article

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.

Muscle & nerve - 1 May 2012

Al-Zaidy Samiah A, Baskin Berivan, Hawkins Cynthia, Yoon Grace, Ray Peter N, Vajsar Jiri

Abstract excerpt

INTRODUCTION: Congenital muscular dystrophies (CMD) with hypoglycosylated α-dystroglycan due to POMT1 mutations are associated with clinical phenotypes that vary in severity. METHODS: We describe a patient with congenital hypotonia, generalized weakness, elevated creatine kinase (CK), and normal brain imaging. RESULTS: Histochemical analysis of the index case's muscle showed deficiency of glycosylated...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22499106
DOI: 10.1002/mus.23274

Genes

POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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