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Article

POMT2 mutation in a patient with 'MEB-like' phenotype.

Neuromuscular disorders : NMD - 1 Jul 2006

Mercuri E, D'Amico A, Tessa A, Berardinelli A, Pane M, Messina S, van Reeuwijk J, Bertini E, Muntoni F, Santorelli F M

Abstract excerpt

Mutations in POMT2 have so far only been reported in patients with Walker-Warburg phenotype. We report heterozygous POMT2 mutations in an a girl with a milder phenotype characterized by mental retardation, microcephaly, hypertrophy of the quadriceps and calf muscles, and structural brain changes mostly affecting the posterior fossa. Our findings suggest that, as previously reported for POMT1 and FKRP, mutations...

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Methodology Data sources Editorial policy Privacy Delete account & data About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 16701995
DOI: 10.1016/j.nmd.2006.03.016

Genes

POMT2
FKRP
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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Semantic proximity does not establish scientific evidence. Graph snapshot: 2026-09-29.

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