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Article

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.

European journal of human genetics : EJHG - 1 Dec 2012

Bello Luca, Melacini Paola, Pezzani Raffaele, D'Amico Adele, Piva Luisa, Leonardi Emanuela, Torella Annalaura, Soraru Gianni, Palmieri Arianna, Smaniotto Gessica, Gavassini Bruno F, Vianello Andrea, Nigro Vincenzo, Bertini Enrico, Angelini Corrado, Tosatto Silvio C E, Pegoraro Elena

Abstract excerpt

Protein-o-mannosyl transferase 1 (POMT1) is a glycosyltransferase involved in α-dystroglycan (α-DG) glycosylation. Clinical phenotype in POMT1-mutated patients ranges from congenital muscular dystrophy (CMD) with structural brain abnormalities, to limb-girdle muscular dystrophy (LGMD) with microcephaly and mental retardation, to mild LGMD. No cardiac involvement has until now been reported in POMT1-mutated...

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Source

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Identifiers

PMID: 22549409
DOI: 10.1038/ejhg.2012.71
PMCID: PMC3499746

Genes

POMT1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Research trail→

Click a neighbor to travelStep 1 · 12 closest

Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.PMID 22549409Read ↗

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

A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Semantic proximity Read ↗

Clinical features and molecular characterization of a patient with muscle-eye-brain disease: a novel mutation in the POMGNT1 gene.Semantic proximity Read ↗

Clinical long-time course, novel mutations and genotype-phenotype correlation in a cohort of 27 families with POMT1-related disordersSemantic proximity Read ↗

Dystroglycanopathy with two novel POMT1 mutations in a Chinese boy with developmental delay and muscular dystrophy.Semantic proximity Read ↗

Clinical and molecular genetic analysis further delineates the phenotypic variability of POMT2-related limb girdle muscular dystrophy type R14Semantic proximity Read ↗

The expanding phenotype of POMT1 mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation.Semantic proximity Read ↗

Novel synonymous substitution in POMGNT1 promotes exon skipping in a patient with congenital muscular dystrophy.Semantic proximity Read ↗

Identification of a novel missense c.386G > A variant in a boy with the POMGNT1-related muscular dystrophy-dystroglycanopathy.Semantic proximity Read ↗

A homozygous DPM3 mutation in a patient with alpha-dystroglycan-related limb girdle muscular dystrophy.Semantic proximity Read ↗

Milder phenotype of congenital muscular dystrophy in a novel POMT1 mutation.Semantic proximity Read ↗

Homozygosity Mapping and Whole-Genome Sequencing Links a Missense Mutation in POMGNT1 to Autosomal Recessive Retinitis Pigmentosa.Semantic proximity Read ↗

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