Limb-Girdle Muscular Dystrophy with α-Dystroglycan Deficiency and Mutations in the ISPD GENE.

From the Don Carlo Gnocchi Onlus Foundation (G.T.), Italy
Neurology (Impact Factor: 8.3). 02/2013; 80(10). DOI: 10.1212/WNL.0b013e3182840cbc
Source: PubMed

ABSTRACT Defects in the posttranslational modification of α-dystroglycan (α-DG) have been implicated in clinically distinct dystroglycanopathies that present as congenital muscular dystrophies with multisystem involvement, limb-girdle muscular dystrophies (LGMDs), or a spectrum of intermediate phenotypes.(1,2) Recently, mutations in ISPD, encoding the isoprenoid synthase domain containing protein, have been described in Walker-Warburg syndrome and muscle-eye-brain disease, 2 typical dystroglycanopathies.(3,4).

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