GNE myopathy
GNE myopathy
Definition
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 distal myopathy with rimmed vacuoles, distal myopathy, Nonaka type, DMRV, hereditary inclusion body myopathy type 2, HIBM2, IBM2, inclusion body myopathy autosomal recessive, inclusion body myopathy type 2, Nonaka myopathy, quadriceps-sparing myopathy — per MONDO