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

Authors: Biancheri, R  Falace, A  Tessa, A  Pedemonte, M  Scapolan, S  Cassandrini, D  Aiello, C  Rossi, A  Broda, P  Zara, F  Santorelli, FM  Minetti, C  Bruno, C 
Citation: Biancheri R, etal., Biochem Biophys Res Commun. 2007 Nov 30;363(4):1033-7. Epub 2007 Sep 25.
Pubmed: (View Article at PubMed) PMID:17923109
DOI: Full-text: DOI:10.1016/j.bbrc.2007.09.066

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.

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CRRD Object Information
CRRD ID: 11532762
Created: 2016-09-07
Species: All species
Last Modified: 2016-09-07
Status: ACTIVE



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RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.