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Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.

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

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  • 1Muscular and Neurodegenerative Disease Unit, G. Gaslini Institute and University of Genova, Largo Gaslini 5, 16147 Genova, Italy. roberta@biancheri.com

Abstract

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 girl with a mild limb-girdle muscular dystrophy (LGMD) phenotype, marked elevated serum creatine kinase levels, and absence of brain involvement. Muscle biopsy revealed myopathic and inflammatory changes and severe alpha-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.

PMID:
17923109
[PubMed - indexed for MEDLINE]
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