Limb-girdle phenotype is frequent in patients with myopathy associated with GNE mutations

Abstract The gene GNE encodes a bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Its mutations are found in distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM). Those disorders are characterized clinically by predominant anter...

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Bibliographic Details
Published in:Journal of the neurological sciences 2012-10, Vol.321 (1), p.77-81
Main Authors: Park, Young-Eun, Kim, Hyang-Suk, Choi, Eun-Suk, Shin, Jin-Hong, Kim, Sun-Young, Son, Eun-Hui, Lee, Chang-Hoon, Kim, Dae-Seong
Format: Article
Language:English
Subjects:
Adolescent
Adult
Asian Continental Ancestry Group
Biological and medical sciences
Diseases of striated muscles. Neuromuscular diseases
Distal myopathy with rimmed vacuoles
Female
Genetic Association Studies
Genetic Predisposition to Disease - genetics
GNE
Hereditary inclusion body myopathy
Humans
Indexing in process
Male
Medical sciences
Middle Aged
Multienzyme Complexes - genetics
Multienzyme Complexes - metabolism
Muscle, Skeletal - pathology
Muscular Dystrophies, Limb-Girdle - diagnostic imaging
Muscular Dystrophies, Limb-Girdle - genetics
Mutation - genetics
Neurology
Phenotype
RNA, Messenger - metabolism
Tomography, X-Ray Computed
Young Adult
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Summary:Abstract The gene GNE encodes a bifunctional enzyme, UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. Its mutations are found in distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (HIBM). Those disorders are characterized clinically by predominant anterior tibial muscle weakness and atrophy, and pathologically by rimmed vacuoles on muscle biopsy. We analyzed 11 Korean patients with GNE mutations. The mutations showed ethnic similarity to those of Japanese patients, showing the highest frequency with V572L. Another mutation of C13S was also found recurring in our patient group. Interestingly, about half of the patients showed limb-girdle myopathy rather than distal myopathy. This was further represented by limb muscle CT scans revealing atrophic hamstring and relatively spared anterior tibial muscle. However, quadriceps muscles were consistently spared both in distal and limb-girdle phenotypes. In conclusion, this study demonstrates a phenotypic diversity associated with GNE mutations. Recognizing a wider clinical spectrum of GNE mutations will help benefit more patients with imminent new therapy.
ISSN:0022-510X
1878-5883
DOI:10.1016/j.jns.2012.07.061