Disease #02565 (NM;IBM2 (myopathy, Nonaka (NM, inclusion body myopathy, type 2 (IBM-2))), OMIM:605820)

Official abbreviation NM;IBM2
Name myopathy, Nonaka (NM, inclusion body myopathy, type 2 (IBM-2))
OMIM ID 605820
Human Phenotype Ontology Project (HPO) HPO
Inheritance Autosomal recessive
Individuals reported having this disease 16
Phenotype entries for this disease 16
Associated with 1 gene GNE
Associated tissues -
Disease features -
Remarks -
Date created 2014-09-25 23:29:40 +02:00 (CEST)
Date last edited 2021-12-10 21:51:32 +01:00 (CET)


Individuals

16 entries on 1 page. Showing entries 1 - 16.
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00056090 - - 2-generation family, 2 affected males M - Japan - >33y - - - NM;IBM2 myopathy, Nonaka; GNE GNE 2 2 Johan den Dunnen
00056091 - - - M - Japan - - - - - NM;IBM2 myopathy, Nonaka; moderate proximal weakness L/E, quadriceps involvement, atrophy hand muscles; GNE GNE 2 2 Johan den Dunnen
00056092 - - - F - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056093 - - - M - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056094 - - - F - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056095 - - - F - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056096 - - - F - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056097 - - - M - Japan - - - - - NM;IBM2 myopathy, Nonaka; late onset, slowly progressive; GNE GNE 2 2 Johan den Dunnen
00056098 - - - M - Japan - - - - - NM;IBM2 myopathy, Nonaka, typical; GNE GNE 2 2 Johan den Dunnen
00056099 - - 2-generation family, 2 affected males M - Japan - >32y - - - NM;IBM2 myopathy, Nonaka; GNE GNE 2 2 Johan den Dunnen
00056130 - - - M - Japan - - - - - NM;IBM2 myopathy, Nonaka; CPK 2281 GNE GNE 2 1 Johan den Dunnen
00104895 - - - - - Japan - - - - - NM;IBM2 - 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 - - - - - NM;IBM2 see paper; ..., myopathy, thrombocytopenia (during treatment for neonatal jaundice) GNE GNE 2 2 Johan den Dunnen
00248389 Pat1 PubMed: Grecu 2021 - F no France - >63y - - - NM;IBM2 see paper; ..., weakness of foot dorsal/plantar flexors and hamstrings, leg atrophy, pes cavus; CK level normal; CT fatty change in the gastrocnemius > tibialis anterior, biceps femoris and gluteus medius muscles bilaterally; muscle biopsy internalized nuclei, fiber type grouping; slow progression of weakness; >15y-ambulatory without aid GNE GNE 1 1 Leonardo Salviati
00407641 Pat2 PubMed: Grecu 2021 - M no Italy - - - - - NM;IBM2 asymetric weakness of foot dorsiflexors and hamstring, unilateral interossei and wrist extensors/flexors, atrophy of weak muscles; raised CK (900U/L); MRI fatty change in the tibialis anterior, medial gastrocnemius and semitendinosus muscles; STIR hyperintensity of tibialis anterior; diffuse limb fasciculations after 6m, progression of weakness after 1 y GNE GNE 2 1 Johan den Dunnen
00407642 Pat3 PubMed: Grecu 2021 - M - Italy - - - - - NM;IBM2 asymetric weakness foot dorsiflexors, bilateral Achilles’ tendon retraction; normal CK; CT fatty change, atrophy tibialis anterior bilaterally; muscle biopsy fiber type grouping angular atrophic fibers (one with rimmed vacuoles), nuclear clumps; slow progression weakness, involvement of distal upper limb muscles; 19y-ambulatory with aid GNE GNE 2 1 Johan den Dunnen
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