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Article

POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.

Biochemical and biophysical research communications - 30 Nov 2007

Biancheri Roberta, Falace Antonio, Tessa Alessandra, Pedemonte Marina, Scapolan Sara, Cassandrini Denise, Aiello Chiara, Rossi Andrea, Broda Paolo, Zara Federico, Santorelli Filippo Maria, Minetti Carlo, Bruno Claudio

Abstract excerpt

Defects in glycosylation of alpha-dystroglycan are associated with several forms of muscular dystrophies. Mutations in POMT2 gene have been identified in patients with congenital muscular dystrophy and brain involvement, either characterized by a Walker-Warburg/muscle-eye-brain phenotype, or by microcephaly, mental retardation, and cerebellar hypoplasia. We identified a POMT2 homozygous missense mutation in a...

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Source

Identifiers

PMID: 17923109
DOI: 10.1016/j.bbrc.2007.09.066

Genes

POMT2

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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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POMT2 gene mutation in limb-girdle muscular dystrophy with inflammatory changes.PMID 17923109Read ↗

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