Article ID | Journal | Published Year | Pages | File Type |
---|---|---|---|---|
1936685 | Biochemical and Biophysical Research Communications | 2007 | 5 Pages |
Abstract
Defects in glycosylation of α-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 α-dystroglycan reduction. In view of the remarkable mild clinical picture, we propose to designate this phenotype as LGMD2N.
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Authors
Roberta Biancheri, Antonio Falace, Alessandra Tessa, Marina Pedemonte, Sara Scapolan, Denise Cassandrini, Chiara Aiello, Andrea Rossi, Paolo Broda, Federico Zara, Filippo Maria Santorelli, Carlo Minetti, Claudio Bruno,