Nonaka myopathy: First report of a rare mutation c.1702T>Cfrom India

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Case Report

Author Details : Somarajan Anandan*, Divine S Shajee, Jyothish P Kumar, Sajeesh S Rajendran, Sourav Asha Somarajan

Volume : 10, Issue : 3, Year : 2024

Article Page : 174-177

https://doi.org/10.18231/j.ijn.2024.038

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Abstract

Nonaka myopathy is an autosomal recessive muscle disease which is slowly progressive. It typically presents between age 20 and 40 years with bilateral foot drop caused by tibialis anterior muscle weakness. Subsequently involvement of the posterior compartment of the leg, followed by involvement of hamstrings, then hip girdle muscles occur, with relative sparing of the quadriceps. About ten to 20 years after the onset, patient may become wheel chair bound. It is caused by mutation in GNE gene on chromosome 9. Here we describe a case of Nonaka myopathy caused by homozygous missense mutation in GNE gene at codon 1702T>C(p.Phe568Leu) which has not been reported from India so far.
 

Keywords: GNE myopathy, Late onset Nonaka Myopathy, c1702T>C, pPhe568Leu

How to cite : Anandan S, Shajee D S, Kumar J P, Rajendran S S, Somarajan S A, Nonaka myopathy: First report of a rare mutation c.1702T>Cfrom India. IP Indian J Neurosci 2024;10(3):174-177

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