All individuals with variants in gene BVES

7 entries on 1 page. Showing entries 1 - 7.
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00104044 26642364_Fam PubMed: Schindler 2016, Journal: Schindler 2016 3-generation family, 3 affecteds (3M), unaffected heterozygous carrier parents/sibs M - Italy Albania - - - - LGMDR25;LGMD2X cardiac arrhythmia, limb-girdle muscular dystrophy 1 3 Johan den Dunnen
00305556 Fam1Pat1 PubMed: de Ridder 2019 2-generation family, affected sister/brother, unaffected heterozygous carrier mother F yes - North Africa - - - - MD exercise intolerance, no muscle weakness (proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 41y-ambulatory; elevated serum CK (1300-3661 IU/L); 28y-EMG normal; resting ECG first degree AV block, ECG normal; Holter monitoring first degree AV block 1 1 Johan den Dunnen
00305557 Fam1Pat2 PubMed: de Ridder 2019 sister M yes - North Africa - - - - MD palpitations, faintness, weakness right calf muscle (no weakness proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 37y-ambulatory; elevated serum CK (1074-5500 IU/L); 30y-EMG myopathic; resting ECG first degree AV block, ECG normal; Holter monitoring second-degree AV block (Mobitz type 2), incomplete right bundle branch block; bicycle ergometer Mobitz type 2 second-degree AV block during recovery; 21y-muscle biopsy myopathic (left deltoid) 1 1 Johan den Dunnen
00305558 Fam2Pat3 PubMed: de Ridder 2019 2-generation family, 1 affected, unaffected heterozygous carrier relatives F - Belgium white - - - - MD muscle weakness periscapular, proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs; 65y-wheel chair; elevated serum CK (1918 IU/L); 45y-EMG myopathic; resting ECG normal, ECG aortic valve stenosis; Holter monitoring nocturnal first-degree AV block; bicycle arm ergometer no increase heart rate during the test, borderline first-degree AV block; 45y-muscle biopsy myopathic (quadriceps) 1 1 Johan den Dunnen
00305559 Fam3Pat4 PubMed: de Ridder 2019 2-generation family, 1 affected, unaffected heterozygous carrier relatives M yes Belgium white - - - - MD myalgia, no muscle weakness (proximal upper limbs, proximal lower limbs, distal upper limbs, distal lower limbs); 44y-ambulatory; elevated serum CK (3500-4000 IU/L); 43y-EMG myopathic; resting ECG normal, ECG normal; Holter monitoring octurnal second-degree AV block (Mobitz type 2); 43y-muscle biopsy myopathic (quadriceps) 1 1 Johan den Dunnen
00314065 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - - - - LGMD - 1 1 Johan den Dunnen
00415306 POPDC1 - - - yes (Pakistan) - - - - - ? - 1 1 Muhammad Umair
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