Danon disease due to a novel splice mutation in the LAMP2 gene

2007 ◽  
Vol 37 (3) ◽  
pp. 338-342 ◽  
Author(s):  
Amelie Nadeau ◽  
Christian Therrien ◽  
George Karpati ◽  
Michael Sinnreich
Keyword(s):  
Splice Mutation ◽  
Danon Disease ◽  
Lamp2 Gene

Danon Disease: Clinical Presentation and Diagnostic Workup in a Case of a Male Patient with a Novel Mutation in the LAMP2 Gene

2016 ◽  
Vol 47 (S 01) ◽  
Author(s):  
A. Dieckmann ◽  
F. Majer ◽  
H. Hulkova ◽  
M. Farr ◽  
T. Kalina ◽  
...  
Keyword(s):  
Male Patient ◽  
Clinical Presentation ◽  
Novel Mutation ◽  
Diagnostic Workup ◽  
Danon Disease ◽  
Lamp2 Gene

Detection of somatic and germline mosaicism for the LAMP2 gene mutation c.808dupG in a Chinese family with Danon disease

Gene ◽  
2012 ◽  
Vol 507 (2) ◽  
pp. 174-176 ◽  
Author(s):  
Xiao-Ling Chen ◽  
Yan Zhao ◽  
Hai-Ping Ke ◽  
Wen-Ting Liu ◽  
Zhen-Fang Du ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Chinese Family ◽  
Germline Mosaicism ◽  
Danon Disease ◽  
Lamp2 Gene

scholarly journals Psychiatric and cognitive characteristics of individuals with Danon disease (LAMP2 gene mutation)

2017 ◽  
Vol 173 (9) ◽  
pp. 2461-2466 ◽  
Author(s):  
Maya Yardeni ◽  
Omri Weisman ◽  
Hanna Mandel ◽  
Ronnie Weinberger ◽  
Giovanni Quarta ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Danon Disease ◽  
Cognitive Characteristics ◽  
Lamp2 Gene

Danon disease caused by two novel mutations of the LAMP2 gene: implications for two ends of the clinical spectrum

2012 ◽  
Vol 31 (07) ◽  
pp. 224-231 ◽  
Author(s):  
Daojun Hong ◽  
Zhihong Shi ◽  
Wei Zhang ◽  
Zhaoxia Wang ◽  
Yun Yuan
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Danon Disease ◽  
Lamp2 Gene

A new phenotype of severe dilated cardiomyopathy associated with a mutation in the LAMP2 gene previously known to cause hypertrophic cardiomyopathy in the context of Danon disease

2019 ◽  
Vol 62 (1) ◽  
pp. 77-80 ◽  
Author(s):  
Polyxeni Gourzi ◽  
Malena P. Pantou ◽  
Angeliki Gkouziouta ◽  
Loukas Kaklamanis ◽  
Dimitrios Tsiapras ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Dilated Cardiomyopathy ◽  
Danon Disease ◽  
Lamp2 Gene

Early onset of cardiomyopathy and intellectual disability in a girl with Danon disease associated with a de novo novel mutation of the LAMP2 gene

2016 ◽  
Vol 36 (6) ◽  
pp. 561-565 ◽  
Author(s):  
Kazuma Sugie ◽  
Hiroyuki Yoshizawa ◽  
Kenji Onoue ◽  
Yoko Nakanishi ◽  
Nobuyuki Eura ◽  
...  
Keyword(s):  
Intellectual Disability ◽  
Early Onset ◽  
De Novo ◽  
Novel Mutation ◽  
Danon Disease ◽  
Lamp2 Gene

Identification of Two Novel LAMP2 Gene Mutations in Danon Disease

2016 ◽  
Vol 32 (11) ◽  
pp. 1355.e23-1355.e30 ◽  
Author(s):  
Beáta Csányi ◽  
Anca Popoiu ◽  
Lidia Hategan ◽  
Zoltán Hegedűs ◽  
Viktória Nagy ◽  
...  
Keyword(s):  
Gene Mutations ◽  
Danon Disease ◽  
Lamp2 Gene
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