Nonaka myopathy

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Nonaka myopathy2016-11-27T14:17:18+00:00

Nonaka myopathy 

NEUROLOGY

An autosomal recessive muscle disorder (OMIM:605820) characterised by anterior lower limb compartment weakness with onset in early adulthood, and sparing of the quadriceps muscles.

Micro Muscle biopsies show numerous rimmed vacuoles without inflammation.

Molecular pathology Defects of GNE, which encodes an enzyme that regulates sialic acid biosynthesis, cause Nonaka myopathy.

Synonyms DMRV, myopthy—distal—with rimmed vacuoles, Nonaka distal myopathy 

References http://www.uniprot.org/uniprot/Q9Y223

http://www.omim.org/entry/605820

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