All individuals with variants in gene BAG3

25 entries on 1 page. Showing entries 1 - 25.
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00065234 - Fichna ESHG2016 P10.20 3-generation family, 2 affecteds (2M) M no Poland - - 0 - - LGMD - 1 2 Johan den Dunnen
00102104 BD267-4 - - M yes Pakistan Pastoon - 0 - - PAPA-6 - 2 1 Muhammad Umair
00128385 82 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 2 1 Ellika Sahlin
00128448 210 PubMed: Sahlin 2019, Journal: Sahlin 2019 stillbirth cohort (290 cases from Sweden) M - Sweden - 0 - - - ? - 1 1 Ellika Sahlin
00163905 - - - M - (Germany) - - 0 - - ? HP:0001644 (Dilated cardiomyopathy) 1 1 IMGAG
00183197 - PubMed: van Spaendonck-Zwarts 2014 4-generation family, 2 affecteds M - Netherlands - - 0 - - CMD mild DCM, 1 case peripartum cardiomyopathy 1 2 Johan den Dunnen
00183198 - PubMed: Selcen 2009 - M - - - >15y 0 - - MFM toe walker (early childhood); early teens restrictive cardiomyopathy;13y-heart transplant; 15y-severe diffuse muscle weakness, atrophy, contractures knees/ankles, bilateral diaphragm paralysis, respiratory insufficiency; raised CPK (3x) 1 1 Johan den Dunnen
00183199 - PubMed: Selcen 2009 - F - - - >17y 0 - - MFM 14y-restrictive respiratory insufficiency, required assisted night ventilation; 15y-hypernasal speech, axial and moderately severe distal more than proximal muscle weakness; 17y-increased spinal stiffness/proximal weakness, EMG and nerve conduction myopathic motor unit potentials, axonal and demyelinating peripheral neuropathy, ECG hypertrophic cardiomyopathy; raised CPK (6x) 1 1 Johan den Dunnen
00183200 - PubMed: Selcen 2009 - M - - - 13y 0 - - MFM toe walker as toddler; 7y-progressive leg weakness, fatigability, valgus ankle deformity; 11y-moderate proximal muscle weakness, thoracic scoliosis, rigid spine predominantly affecting cervical region, ECG restrictive cardiomyopathy (slightly large left atrium, trivial pulmonary/mitral regurgitation); 12y-rapid progression, marked weakness axial/proximal limb muscles, scapular winging, reduced forced vital capacity; 13y-respiratory insufficiency, intolerant for nocturnal ventilatory support; died after chest infection; raised CPK (15x) 1 1 Johan den Dunnen
00183201 - PubMed: Sabatelli 1992 - M - Italy - 20y 0 - - MFM 12y-bilateral pes cavus, slight dorsal scoliosis, neck/distal leg muscle weakness progressing to generalized wasting, restrictive cardiomyopathy (secondary enlargement both atria); muscle biopsy showed accumulation dark dense material throughout myofiber sarcoplasm (desmin positive), increment intermyofibrillar spaces, multiple core areas; reduced density myelinated axons, occurrence giant axons; 20y-died cardiac/respiratory failure 1 1 Johan den Dunnen
00183202 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British 15y 0 - - MFM 5y-problems running 10y-diagnosis restrictive cardiomyopathy; 13y-heart transplantation, ventilator-dependent; global muscle weakness (predominantly proximal/respiratory muscles); muscle biopsy atrophic fibers, focal myofibrillar disorganization, dark inclusions (desmin prominence), moderate reduction large diameter myelinated fibers, visible loss smaller diameter fibers, occasional giant axons having thin/absent myelin sheaths 1 1 Johan den Dunnen
00183203 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British >29y 0 - - MFM predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 14y-cardiac transplant; 29y-ventilator dependent; severely disabled; muscle biopsy showed myofibrillar breakdown, desmin-reactive inclusions, Z-line streaming 1 1 Johan den Dunnen
00183204 - PubMed: Odgerel 2010 - M - United Kingdom (Great Britain) British 9y 0 - - MFM predominant proximal muscle weakness, restrictive/hypertrophic cardiomyopathy, respiratory insufficiency; 9y-died soon after disease onset 1 1 Johan den Dunnen
00183205 - - - M - United States Hispanic - 0 - - MFM - 1 1 Tom Winder
00183206 - - - F - United States white - 0 - - MFM - 1 1 Tom Winder
00183207 - - - M - Canada - - 0 - - MFM - 1 1 Tom Winder
00183208 - - - - - Japan - - 0 - - CMD - 1 1 Takuro Arimura
00183209 - - - - - Japan - - 0 - - CMD - 1 1 Takuro Arimura
00207796 - - - M - Germany - - 0 - - - HP:0010980 (Hyperlipoproteinemia); HP:0001315 (Reduced tendon reflexes); HP:0001513 (Obesity); HP:0003149 (Hyperuricosuria); HP:0000819 (Diabetes mellitus); HP:0004323 (Abnormality of body weight); HP:0100022 (Abnormality of movement); HP:0001252 (Muscular hypotonia); HP:0001265 (Hyporeflexia); HP:0000771 (Gynecomastia); HP:0001288 (Gait disturbance); HP:0001903 (Anemia) 1 1 Andreas Laner
00289994 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 5 Mohammed Faruq
00295115 - PubMed: Narang 2020, Journal: Narang 2020 analysis 2794 individuals (India) - - India - - 0 - - ? - 1 25 Mohammed Faruq
00296541 - - - M - - - - 0 - - ? Elevated serum creatine phosphokinase (HP:0003236); Muscle weakness (HP:0001324); Polyneuropathy (HP:0001271); Sensory impairment (HP:0003474); Type I diabetes mellitus (HP:0100651); Abnormality of the musculature (HP:0003011) 1 1 Andreas Laner
00296709 NCG_00522 PubMed: Haskell 2017 analysis 55 patients M - United States white - 0 - - ? dilated cardiomyopathy 1 1 Johan den Dunnen
00311374 - - - - - - - - - - - CMD-1HH - 1 1 Gemeinschaftspraxis für Humangenetik Dresden
00314064 - PubMed: Topf 2020 analysis 1001 patients with unexplained limb-girdle weakness - - - - - 0 - - LGMD - 1 1 Johan den Dunnen
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