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Article

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker–Warburg syndrome caused by POMT1 mutation

1 May 2003

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Identifiers

PMID: 12757935
DOI: 10.1016/s0925-4439(03)00040-1

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Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker–Warburg syndrome caused by POMT1 mutationPMID 12757935Read ↗

Walker-Warburg Syndrome with POMT1 mutations can be associated with cleft lip and cleft palate.Semantic proximity Read ↗

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Skeletal muscle MRI of the lower limbs in congenital muscular dystrophy patients with novel POMT1 and POMT2 mutations.Semantic proximity Read ↗

Increased Apoptosis of Myoblasts in Drosophila Model for the Walker-Warburg SyndromeSemantic proximity Read ↗

Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylationSemantic proximity Read ↗

POMT1 and POMT2 mutations in CMD patients: a multicentric Italian study.Semantic proximity Read ↗

Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.Semantic proximity Read ↗

Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.Semantic proximity Read ↗

The twisted abdomen phenotype of Drosophila POMT1 and POMT2 mutants coincides with their heterophilic protein O-mannosyltransferase activity.Semantic proximity Read ↗

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