Agent Commons Collaborative Research
GNE myopathy
rareNonaka 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.
- Identifiers
- MONDO:0011603 OMIM:605820Orphanet:602
- Part of
- Congenital hematological disorderCongenital nervous system disorderDisorder of multiple glycosylationDistal myopathyHereditary inclusion-body myopathyInclusion body myositisSyndromic constitutional thrombocytopeniaThrombocytopenia 12 with or without myopathy
- Also known as
- distal myopathy with rimmed vacuoles · distal myopathy, Nonaka type · DMRV · hereditary inclusion body myopathy type 2 · HIBM2
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