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 ORIGINAL ARTICLE
Year : 2013  |  Volume : 61  |  Issue : 4  |  Page : 371--374

GNE myopathy in India


1 Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
2 Department of Neuropathology, National Institute of Mental Health and Neurosciences, Bangalore, Karnataka, India
3 Department of Neuromuscular Research, National Institute of Neuroscience; Department of Clinical Development, Translational Medical Center, National Center of Neurology and Psychiatry, Tokyo, Japan

Correspondence Address:
Atchayaram Nalini
Department of Neurology, National Institute of Mental Health and Neurosciences, Bangalore - 560 029, Karnataka
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.117609

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Background: GNE myopathy is a clinicopathologically distinct distal myopathy with autosomal-recessive inheritance. The GNE gene mutations are known to cause this form of distal myopathy Materials and Methods: Over the last 6 years, a total of 54 patients from 48 families were diagnosed to have GNE myopathy based on the clinical and histopathological findings. We have reported on 23 cases earlier and from this cohort 12 patients from 11 families underwent genetic testing for GNE mutation. Results: Nine patients belonging to eight families were confirmed as GNE myopathy by genetic analysis. There were six women and three men. Mean age of onset was 26.7 ± 5.47 years (20-36 years) and mean age at clinical examination was 32.3 ± 4.2 years (28-39 years). Mean duration of the illness was 5.7 ± 4.7 years (1-14 years). All had characteristic clinical features of progressive weakness and wasting of the anterior part of leg muscles, adductors of thighs and hamstrings with relative sparing of the quadriceps muscles. Biopsy from the tibialis anterior muscles revealed the presence of rimmed vacuoles. Mutation analysis of the GNE gene revealed that c. 2086G > A (p.Val696Met) change was common in our series like Thailand and six of eight families carried this mutation, heterozygously. Conclusion: These results show the presence of a common mutation in GNE gene in Southeast Asia.






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