Last update 19 Sep 2024

Distal Myopathy, Nonaka Type

Basic Info

Synonyms
DMRV, Distal Myopathy with Rimmed Vacuoles, Distal myopathy with rimmed vacuoles
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Introduction
An autosomal recessive condition caused by mutation(s) in the GNE gene, encoding bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase. It is characterized by distal muscle weakness and atrophy, especially the tibialis anterior, and sparing of the quadriceps.

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