Disease #02565 (NM;IBM-2 (myopathy, Nonaka (NM, inclusion body myopathy, type 2 (IBM-2))), OMIM:605820)

Official abbreviation NM;IBM-2
Name myopathy, Nonaka (NM, inclusion body myopathy, type 2 (IBM-2))
OMIM ID 605820
Human Phenotype Ontology Project (HPO) HPO
Inheritance -
Individuals reported having this disease 13
Phenotype entries for this disease 13
Associated with 1 gene GNE
Associated tissues -
Disease features -
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Individuals

13 entries on 1 page. Showing entries 1 - 13.
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00056090 - - 2-generation family, 2 affected males M - Japan - >33y 0 - - NM;IBM-2 myopathy, Nonaka; GNE GNE 2 2 Johan den Dunnen
00056091 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; moderate proximal weakness L/E, quadriceps involvement, atrophy hand muscles; GNE GNE 2 2 Johan den Dunnen
00056092 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056093 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056094 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056095 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056096 - - - F - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056097 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; late onset, slowly progressive; GNE GNE 2 2 Johan den Dunnen
00056098 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056099 - - 2-generation family, 2 affected males M - Japan - >32y 0 - - NM;IBM-2 myopathy, Nonaka; GNE GNE 2 2 Johan den Dunnen
00056130 - - - M - Japan - - 0 - - NM;IBM-2 myopathy, Nonaka; CPK 2281 GNE GNE 2 1 Johan den Dunnen
00104895 - - - - - Japan - - 0 - - NM;IBM-2 - GNE GNE 1 1 Satomi Mitsuhashi
00153017 25257349-FamPat1 PubMed: Izumi 2014 2-generation family, 2 affected sibs, unaffected heterozygous carrier parents M no Japan - - 0 - - NM;IBM-2 see paper; ..., myopathy, thrombocytopenia (during treatment for neonatal jaundice) GNE GNE 2 2 Johan den Dunnen
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