GNE myopathy

MONDO:0011603

Nonaka distal myopathy (described in Japan) and the quadriceps-sparing autosomal recessive inclusion body myopathy type 2 (IBM2; independently described in Iranian Jews and later in other Jewish and non-Jewish populations) constitute the same pathological entity, distinguished by the sparing of quadriceps.

Also known as: DMRV, HIBM2, IBM2, Nonaka myopathy, distal myopathy with rimmed vacuoles, distal myopathy, Nonaka type, hereditary inclusion body myopathy type 2, inclusion body myopathy autosomal recessive

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