All individuals with variants in gene JAG2

24 entries on 1 page. Showing entries 1 - 24.
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00239197 patient PubMed: Vieira 2005 - - - (Philippines);(United States) - - 0 - - OFC - 1 1 Johan den Dunnen
00372524 BELPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F yes Morocco - - 0 - - MD onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles/elbows; normal muscle trophism; facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.57; moderate intellectual disability; raised CK 1.3x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 2 LOVD
00372525 BELPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 sister F yes Morocco - - 0 - - MD onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.58; no intellectual disability; no cardiac disease 1 1 LOVD
00372526 IRAPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no Iran - - 0 - - MD onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 5y-loss of ambulation; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; speech delay; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 1 LOVD
00372527 US3PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - MD onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, stable; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 2 1 LOVD
00372528 ESTPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected F no Estonia - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows; atrophy prox > distal; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC normal; speech delay; raised CK 1.5x; EMG myopathic; muscle biopsy dystrophic; mitral valve prolapse (non-significant) 2 1 LOVD
00372529 US1PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no United States - - 0 - - MD onset childhood; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles/elbows/knees/shoulders/fingers; atrophy generalized; facial weakness; ptosis; neck weakness; scoliosis; rigid spine; FVC 0.74; mild intellectual disability; raised CK 4x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 2 1 LOVD
00372530 FRAPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 1 affected M no France - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 14y-loss of ambulation; contractures ankles/elbows/knees/shoulders/fingers/wrists; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; FVC 0.55; speech delay; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 1 LOVD
00372531 US2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected sister F no United States - - 0 - - MD onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 2x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 2 2 LOVD
00372532 US2PatII3 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no United States - - 0 - - MD onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; contractures ankles; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 2.5x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 2 1 LOVD
00372533 POLPatII3 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected (2F, M) F no Poland - - 0 - - MD onset young adult; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.66; no intellectual disability; normal CK; EMG myopathic; no cardiac disease 1 3 LOVD
00372534 POLPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 sister F no Poland - - 0 - - MD onset young adult; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.77; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 1 LOVD
00372535 POLPatII5 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no Poland - - 0 - - MD onset young adult; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; neck weakness; no scoliosis; no rigid spine; FVC 0.84; no intellectual disability; raised CK 1.1x; myocarditis paroxysmal supraventricular tachycardia, atrioventricular block, 36y-pacemaker 1 1 LOVD
00372536 UKPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) F no United Kingdom (Great Britain) - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; no intellectual disability; normal CK; EMG normal; no cardiac disease 1 2 LOVD
00372537 UKPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no United Kingdom (Great Britain) - - 0 - - MD onset infancy delayed motor milestones; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy lower limbs; no facial weakness; ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; mild intellectual disability; normal CK; EMG normal; Wolff-Parkinson-White syndrome (ablation) 1 1 LOVD
00372538 UK2PatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) F no United Kingdom (Great Britain) - - 0 - - MD onset early childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 8y-loss of ambulation; contractures ankles; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; autism spectrum disorder; normal CK; EMG myopathic; muscle biopsy dystrophic; cardiomyopathy 2 2 LOVD
00372539 UK2PatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M no United Kingdom (Great Britain) - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 11y-loss of ambulation; contractures ankles; atrophy generalized; no facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; no intellectual disability; normal CK; cardiomyopathy 2 1 LOVD
00372540 GERPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected brothers M yes Sri Lanka - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, rapid progression; 9y-loss of ambulation; contractures ankles/elbows/hips/knees/shoulders; atrophy PUL/DLL/neck; facial weakness; no ptosis; neck weakness; scoliosis; rigid spine, rigid neck; FVC 0.41; no intellectual disability; normal CK; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 3 LOVD
00372541 GERPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Sri Lanka - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; atrophy PUL/DLL/neck; facial weakness; no ptosis; neck weakness; scoliosis; rigid spine; FVC 0.42; no intellectual disability; raised CK 1.4x; EMG myopathic; muscle biopsy dystrophic; no cardiac disease 1 1 LOVD
00372542 GERPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Sri Lanka - - 0 - - MD onset childhood; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; 18y-loss of ambulation; contractures ankles/elbows/hips/knees; atrophy PUL/DLL/neck; no facial weakness; no ptosis; neck weakness; no scoliosis; rigid spine; FVC 0.44; no intellectual disability; raised CK 1.1x; no cardiac disease 1 1 LOVD
00372543 UAEPatII4 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 2 affected (F, M) M yes United Arab Emirates - - 0 - - MD onset young adult; proximal upper limb weakness, distal upper limb weakness, proximal lower limb weakness, distal lower limb weakness, slow progression; still ambulant; no contractures; normal muscle trophism; no facial weakness; no ptosis; neck weakness; scoliosis; no rigid spine; FVC 0.75-0.80; no intellectual disability; normal CK; EMG normal; no cardiac disease 1 2 LOVD
00372544 EGYPatII1 PubMed: Coppens 2021, Journal: Coppens 2021 2-generation family, 3 affected (F, 2M) F yes Egypt - - 0 - - MD onset adolescence; proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; contractures ankles; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; normal CK; EMG myopathic; no cardiac disease 1 3 LOVD
00372545 EGYPatII2 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Egypt - - 0 - - MD proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.4x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease 1 1 LOVD
00372546 EGYPatII3 PubMed: Coppens 2021, Journal: Coppens 2021 brother M yes Egypt - - 0 - - MD proximal upper limb weakness, no distal upper limb weakness, proximal lower limb weakness, no distal lower limb weakness, slow progression; still ambulant; no contractures; hypertrophy calf; no facial weakness; no ptosis; no neck weakness; no scoliosis; no rigid spine; FVC normal; no intellectual disability; raised CK 3.8x; EMG myopathic; muscle biopsy increased fiber size variability; no cardiac disease 1 1 LOVD
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