has material basis in germline mutation in GNE inclusion body myositis congenital hematological disorder GNE myopathy https://www.malacards.org/card/nonaka_myopathy hereditary inclusion body myopathy type 2 inclusion body myopathy 2, autosomal recessive DOID:0080718 quadriceps sparing myopathy Orphanet:602 Nonaka myopathy distal myopathy with rimmed vacuoles UMLS:C1853926 HIBM2 quadriceps-sparing myopathy GARD:0009493 rimmed vacuole myopathy NM inclusion body myopathy, hereditary, autosomal recessive distal myopathy, Nonaka type OMIM:605820 NORD:2011 inclusion body myopathy type 2 DMRV MEDGEN:381298 IBM2 QSM SCTID:702382000 NANDO:1200218 myopathy, distal, with or without rimmed vacuoles inclusion body myopathy 2, autosomal recessive, formerly myopathy, distal, with rimmed vacuoles Nonaka distal myopathy inclusion body myopathy, autosomal recessive inclusion body myopathy, quadriceps-sparing 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. inclusion body myopathy autosomal recessive hereditary inclusion-body myopathy disorder of multiple glycosylation syndromic constitutional thrombocytopenia