All individuals with variants in gene LAMP2

133 entries on 2 pages. Showing entries 1 - 100.
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00000208 - PubMed: Sun 2011, Journal: Sun 2011 - M no Netherlands - - 0 - - CHTE central hypothyroidism (FT4 0.50-0.99of lower limit normal), no prolactin deficiency, age sonographic determination testicular volume 17.64y, testicular volume right/left 21/20 (7.3–16ml) 1 1 Yu Sun
00056438 - - - M ? Spain - - 0 - - Danon;GSD-2B - 1 1 Irene Vieitez
00088085 - PubMed: Alroy 2010, Journal: Alroy 2010 2-generation family, 5 affecteds, (3F, 2M) F;M - United States - - 0 - - Danon;GSD-2B see paper; ... 1 5 Johan den Dunnen
00088086 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088087 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088088 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088089 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088090 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088091 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088092 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088093 - PubMed: Cheng 2012, Journal: Cheng 2012 - M no China - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088094 - PubMed: Cheng 2012, Journal: Cheng 2012 - M - China - - 0 - - Danon;GSD-2B see paper;... 1 1 Johan den Dunnen
00088095 - PubMed: Cheng 2012, Journal: Cheng 2012 - M no China - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088096 - PubMed: Fidzianska 2013, Journal: Fidzianska 2013 isolated case and unaffected non-carrier sister M no Poland - - 0 - - Danon;GSD-2B see paper; progressive exertional dyspnea, fatigue, abdominal discomfort, motor/mental development normal, general health good, physical function allowed sports involvement, throbbing precordium, systolic murmur left hemithorax, hepatomegaly, ...; mother died at 46y (dilated cardiomyopathy) 1 1 Johan den Dunnen
00088097 - PubMed: He 2014, Journal: He 2014 2-generation family, 1 affected, unaffected heterozygous carrier mother/sister M no China China - 0 - - Danon;GSD-2B see paper; 14y- admitted to hospital for recurrent episodes of presyncope and severe chest pain on exertion, ... 1 3 Johan den Dunnen
00088098 - PubMed: Kim 2010, Journal: Kim 2010 2-generation family, 1 affected, unaffected non-carrier parents/sibs F no Korea, South (Republic) - - 0 - - Danon;GSD-2B see paper; 13y-unexplained elevation of serum creatinine kinase, proximal weakness, Gower sign, no exertional dyspnea, no cardiac murmur, no hepatomegaly, no muscle atrophy, no hypotonia, normal muscle tone, ... 1 1 Johan den Dunnen
00088099 - PubMed: Regelsberger 2009, Journal: Regelsberger 2009 2-generation family, 1 affected, unaffected non-carrier parents/sib M no Austria - - 0 - - Danon;GSD-2B see paper; skeletal myopathy, mental retardation, ophthalmic manifestations, massive hypertrophic obstructive cardiomyopathy necessitating heart transplantation, ... 2 1 Johan den Dunnen
00088100 - PubMed: Tada 2010, Journal: Tada 2010 isolated case M no Japan - - 0 - - Danon;GSD-2B see paper; 21y-admitted to hospital with exertional dyspnea, ... 1 1 Johan den Dunnen
00088101 - PubMed: Tolb 2010, Journal: Tolb 2010 4-generation family, 4 affecteds (2F, 2M) F;M no United States - - 0 - - Danon;GSD-2B see paper; ... 1 4 Johan den Dunnen
00088102 - PubMed: Yang 2010, Journal: Yang 2010 - M - United States white - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088103 - PubMed: Yang 2010, Journal: Yang 2010 2-generation family, 1 affected, unaffected non-carrier parents M - United States white - 0 - - Danon;GSD-2B see paper;, ..., skeletal muscle weakness, high creatine kinase level, ... 1 1 Johan den Dunnen
00088104 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088105 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088106 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088107 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088108 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088109 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088110 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088111 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088112 - PubMed: Boucek 2011, Journal: Boucek 2011 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088113 - PubMed: Taylor 2007, Journal: Taylor 2007 5-generation family, >13 affecteds F;M no United States - - 0 - - Danon;GSD-2B see paper; ... 1 13 Johan den Dunnen
00088151 - PubMed: Yang 2010, Journal: Yang 2010 - M - United States - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088152 - PubMed: Fanin 2006, Journal: Fanin 2006 2-generation family, 3 affecteds (2F, M) M no Italy - - 0 - - Danon;GSD-2B see paper; ..., easy fatigability, anorexia, abdominal pain, progressive diffuse muscle hypotrophy , Wolff-Parkinson-White (WPW) syndrome, heart failure, several syncopal episodes, elevated creatine kinase 1 3 Johan den Dunnen
00088153 - PubMed: Fanin 2006, Journal: Fanin 2006 3-generation family, 4 affecteds (3F, M) M no Italy - - 0 - - Danon;GSD-2B see paper; ..., 9y-scleral jaundice, abnormal hepatic laboratory tests, liver biopsy chronic hepatitis with normal serology, 18y-electrocardiography revealed WPW syndrome; 22y-exertion dyspnea, difficulty climbing stairs, several syncopal episodes; ... 1 4 Johan den Dunnen
00088154 - PubMed: Fanin 2006, Journal: Fanin 2006, PubMed: Miani 2012, Journal: Miani 2012 4-generation family, 8 affecteds (6F, 2M), 4 women died suddenly M no Italy - - 0 - - Danon;GSD-2B see paper; ..., 12y-subclinical jaundice, viral hepatitis excluded (serology; 18y-easy fatigability after mild effort; 19y-ECG revealed bradycardia, WPW syndrome; 22y-very low aerobic resistance (tread-mill test); 27y-chest X-ray mild cardiomegaly; women have no raised CK 1 8 Johan den Dunnen
00088155 - PubMed: Majer 2014, Journal: Majer 2014 3-generation family, 2 affected brothers M no Czech Republic - - 0 - - Danon;GSD-2B see paper; ..., infancy mild hypotonia, global developmental delay, elevated serum CK levels, ... 1 2 Johan den Dunnen
00088156 - PubMed: Yang 2005, Journal: Yang 2005 4-generation family, 6 affecteds *3F, 3M) F;M no United States - - 0 - - Danon;GSD-2B see paper; ..., presented with HCM as teenager, progressed to dilated cardiomyopathy/heart failure, skeletal myopathy, Wolff-Parkinson-White syndrome; teenage carrier sister has HCM, no skeletal myopathy/WPW, ... 1 6 Johan den Dunnen
00088157 - PubMed: Yang 2005, Journal: Yang 2005 2-generation family, affected mother/son F;M no United States - - 0 - - Danon;GSD-2B see paper; ..., presented with HCM, Wolff-Parkinson-White syndrome, skeletal myopathy as teenager; carrier mother developed DCM during 40s, ... 1 2 Johan den Dunnen
00088158 - PubMed: Schorderet 2007, Journal: Schorderet 2007 3-generation family, 7 affecteds (3F, 4M) F;M no Switzerland - - 0 - - Danon;GSD-2B see paper; ..., 1 7 Johan den Dunnen
00088159 - PubMed: Sabourdy 2009, Journal: Sabourdy 2009 3-generation family, 3 affecteds (F, 2M) mother and 2 sons F;M - Greece - - 0 - - Danon;GSD-2B see paper; ... 1 3 Johan den Dunnen
00088160 - PubMed: Sabourdy 2009, Journal: Sabourdy 2009 - M no Greece - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088161 - PubMed: Cottinet 2011, Journal: Cottinet 2011 2-generation family, affected mother and 3 sons F;M - France - - 0 - - Danon;GSD-2B see paper; ... 1 4 Johan den Dunnen
00088162 - PubMed: Bui 2008, Journal: Bui 2008 - M no United States Mexican - 0 - - Danon;GSD-2B see paper; ..., severe skeletal muscular weakness, respiratory failure, history of two OHTs (1st severe HCM, 2nd allograft rejection, myopathy, ... 1 1 Johan den Dunnen
00088163 - PubMed: Nadeau 2008, Journal: Nadeau 2008 4-generation family, affected grandmother, father and daughter F;M no Canada - - 0 - - Danon;GSD-2B see paper; ..., 1 3 Johan den Dunnen
00088164 - PubMed: Iascone 2008 - M no Italy - - 0 - - Danon;GSD-2B 12y-HCM; 14y-acute episode heart failure, ECG concentric hypertrophy dilated left ventricle with moderate systolic dysfunction, neurological/EMG normal, increased levels serum creatine kinase (638 U/l); 15y orthotopic heart transplantation 1 1 Johan den Dunnen
00088165 - PubMed: Takahashi 2002, Journal: Takahashi 2002 2-generation family, affected brother/daughter F;M no Japan - - 0 - - Danon;GSD-2B see paper; ... 1 2 Johan den Dunnen
00088166 - PubMed: Hong 2012, Journal: Hong 2012 - M no China - - 0 - - Danon;GSD-2B severe hypertrophic cardiomyopathy, Wolff-Parkinson-White syndrome, proximal muscle weakness, chronic painless diarrhea, muscle biopsy autophagic vacuolar myopathy, IHC LAMP2 absence 1 1 Johan den Dunnen
00088167 - PubMed: Hong 2012, Journal: Hong 2012 - M no China - - 0 - - Danon;GSD-2B limb-girdle muscle weakness, mild left ventricular diastolic dysfunction, sub-clinical neuropathy, muscle biopsy autophagic vacuolar myopathy, IHC LAMP2 smear 1 1 Johan den Dunnen
00088956 - PubMed: Viéitez 2008 - - - Spain - - 0 - - Danon;GSD-2B glycogen storage disease, type IIb 1 1 Johan den Dunnen
00088957 - PubMed: Tunon 2008 2-generation family, 4 affecteds (2F, 2M) F;M - Spain - - 0 - - Danon;GSD-2B variable clinical presentations, including cardiomyopathy, skeletal muscle pathology, hepatopathy, abnormal mitochondria/LAMP2 immunohistochemistry 1 4 Johan den Dunnen
00088958 - PubMed: Thiadens 2012, PubMed: van der Kooi 2008 4-generation family, 5 affecteds (F, 4M) F;M - Netherlands - - 0 - - Danon;GSD-2B Danon disease, cone-rod dystrophy (CRD), visual acuity deteriorated progressively, color vision severely disturbed; ERG reduced photopic/scotopic responses, ... 1 5 Johan den Dunnen
00088959 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088960 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088961 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088962 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088963 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088964 - PubMed: D’Souza 2014 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088965 - PubMed: Lacoste-Collin 2002 - M - France white - 0 - - Danon;GSD-2B see paper; cardiomyopathy, mental retardation, myopathy, vacuolar myopathy without acid a-glucosidase deficiency, diffuse chorio-capillary ocular atrophy, successful heart transplantation, ... 1 1 Johan den Dunnen
00088966 - PubMed: Burusnukul 2008 - - - United States - - 0 - - Danon;GSD-2B - 1 1 Johan den Dunnen
00088969 - PubMed: Bertini 2005 2-generation family, unaffected non-carrier mother M - Italy - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088970 - PubMed: Bertini 2005 2-generation family, heterozygous carrier mother M - Italy - - 0 - - Danon;GSD-2B see paper; ... 1 1 Johan den Dunnen
00088971 - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX mental retardation, X-linked (MRX) 1 78 Johan den Dunnen
00088972 - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX mental retardation, X-linked (MRX) 1 1 Johan den Dunnen
00088973 - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX mental retardation, X-linked (MRX) 1 1 Johan den Dunnen
00088974 - PubMed: Tarpey 2009 - M - - - - 0 for details contact Lucy Raymond (flr24 @ cam.ac.uk) - MRX;IDX mental retardation, X-linked (MRX) 1 12 Johan den Dunnen
00088975 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? ? 1 1 Madhuri Hegde
00088976 - from website {DBsub-Emory} - - - (United States) - - 0 - - ? ? 1 1 Madhuri Hegde
00088982 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088983 - PubMed: Echaniz-Laguna 2006 - - - Italy Sardinia - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088984 - PubMed: Di Blasi 2008 3-generation family, 1 affected, 2 uncles mother’s side died suddenly (35y/40y, one pes cavus) M no Italy - - 0 - - Danon;GSD-2B Danon disease, hyperCKemia, hypertrophic cardiomyopathy, no muscle weakness, slight mental impairment; muscle biopsy autophagic vacuoles with sarcolemmal features and glycogen storage 1 1 Peikuan Cong
00088985 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088986 - PubMed: Balmer 2005 2-generation family, affected boy and mother M no Switzerland - 16y 0 - - Danon;GSD-2B Danon disease, see paper; progressive hypertrophic cardiomyopathy, death at 16y (before planned heart transplantation); mother developed severe dilated cardiomyopathy, 46y died of complications 1 2 Peikuan Cong
00088987 - PubMed: Nishino 2000 - M - Greece - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088988 - PubMed: Lacoste-Collin 2002 - M - France white, French - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088989 - PubMed: Di Blasi 2008 - - - Italy - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088990 - PubMed: Arad 2005 2-generation family, 1 affected, unaffected non-carrier parents M no - white; black; Hispanic - 0 - - CMH see paper; hypertrophic cardiomyopathy, ... 1 1 Peikuan Cong
00088991 - PubMed: Charron 2004 - - - France - - 0 - - CMH cardiomyopathy, hypertrophic 1 1 Peikuan Cong
00088992 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088993 - PubMed: Lobrinus 2005 - - - Switzerland - - 0 - - Danon;GSD-2B Danon disease; cardiomyopathy, hypertrophic (HCM) 1 1 Peikuan Cong
00088994 - PubMed: Charron 2004 - - - France - - 0 - - CMH cardiomyopathy, hypertrophic 1 1 Peikuan Cong
00088995 - PubMed: Dougu 2009 - - - Japan - - 0 - - CMH cardiomyopathy, hypertrophic 1 1 Peikuan Cong
00088996 - PubMed: Arad 2005 2-generation family, 1 affected, carrier mother M no - white; black; Hispanic - 0 - - CMH see paper; hypertrophic cardiomyopathy, ... 1 1 Peikuan Cong
00088997 - PubMed: Arad 2005 2-generation family, 1 affected, unaffected non-carrier parents M no - white; black; Hispanic - 0 - - CMH see paper, hypertrophic cardiomyopathy, ... 1 1 Peikuan Cong
00088998 - PubMed: Sabroudy 2009 - - - Greece - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00088999 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089000 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089001 - PubMed: Arad 2005 3-generation family, 3 affecteds (F, 2M), 6 unaffected carrier females F;M - - white; black; Hispanic - 0 - - CMH see paper; hypertrophic cardiomyopathy, ... 1 3 Peikuan Cong
00089002 - PubMed: Nishino 2000 - M - Japan - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089003 - PubMed: Arad 2005 - M no - white; black; Hispanic - 0 - - CMH see paper; hypertrophic cardiomyopathy, ... 1 1 Peikuan Cong
00089005 - PubMed: Di Blasi 2008 - - - Italy - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089006 - PubMed: Arad 2005 - M - - white; black; Hispanic - 0 - - CMH see paper; hypertrophic cardiomyopathy, ... 1 1 Peikuan Cong
00089007 - PubMed: Bertini 2005 - - - United States - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089008 - PubMed: Sabroudy 2009 - - - Greece - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089009 - PubMed: Horvath 2003 - - - Germany - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089010 - PubMed: Musumeci 2005 - M - Italy Italian - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089011 - PubMed: Nishino 2000 - M - Italy - - 0 - - Danon;GSD-2B Danon disease 1 1 Peikuan Cong
00089012 - - 3-generation family, affected mother, daughter (II2, 56y) and grandson (III2, 40y) M no Austria - - 0 - - CM cardiomyopathy, mild 3 3 Hakan Cetin
00089021 - PubMed: Arad 2005 affected mother/son F;M - - - - 0 - - Danon;GSD-2B see paper; hypertrophic cardiomyopathy, ... 1 2 Johan den Dunnen
00108624 Pat241 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH no fam.history of hypertrophic cardiomyopathy; no fam.history of sudden cardiac death; no automatic implantable cardioverter defibrillator; heart transplantation; left ventricular wall thickness (mm) <15b; left ventricular ejection fraction 0.44 1 1 Domenico Coviello
00108628 Pat748 PubMed: Cecconi 2016, Journal: Cecconi 2016 - F - Italy - - 0 - - CMH fam.history of hypertrophic cardiomyopathy; fam.history of sudden cardiac death; automatic implantable cardioverter defibrillator; non-sustained ventricular tachycardia, atrial fibrillation, Wolff-Parkinson-White syndrome; left ventricular wall thickness (mm) 17; left ventricular ejection fraction 0.60 1 1 Domenico Coviello
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