Journal
MUSCLE & NERVE
Volume 40, Issue 3, Pages 340-349Publisher
WILEY
DOI: 10.1002/mus.21385
Keywords
hereditary inclusion-body myopathy; distal myopathy with rimmed vacuoles; h-IBM; DMRV; GNE
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Funding
- Fondazione Don Gnocchi, Catholic University
- Istituto Superiore di Sanita
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Hereditary inclusion-body myopathy (h-IBM), or distal myopathy with rimmed vacuoles (DMRV), is an autosomal recessive disorder with onset in early adult life and a progressive course leading to severe disability. h-IBM/DMRV is due to mutations of a gene (GNE) that codes for a rate-limiting enzyme in the sialic acid biosynthetic pathway. Despite the identification of the causative gene defect, it has not been unambiguously clarified how GNE gene mutations impair muscle metabolism. Although numerous studies have indicated a key role of hyposialylation of glycoproteins in h-IBM/DMRV pathogenesis, others have demonstrated new and unpredicted functions of the GNE gene, outside the sialic acid biosynthetic pathway, that may also be relevant. This review illustrates the clinical and pathologic characteristics of h-IBM/DMRV and the main clues available to date concerning the possible pathogenic mechanisms and therapeutic perspectives of this disorder. Muscle Nerve 40: 340-349, 2009
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