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

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

EXTENSION OF THE CLINICAL SPECTRUM OF DANON DISEASE

Neurology ◽  
2008 ◽  
Vol 70 (16) ◽  
pp. 1358-1359 ◽  
Author(s):  
A. J. van der Kooi ◽  
I. M. van Langen ◽  
E. Aronica ◽  
P. A. van Doorn ◽  
J.H.J. Wokke ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Danon Disease

X-linked Opitz syndrome: Novel mutations in theMID1gene and redefinition of the clinical spectrum

2003 ◽  
Vol 120A (2) ◽  
pp. 222-228 ◽  
Author(s):  
Francesca De Falco ◽  
Silvia Cainarca ◽  
Grazia Andolfi ◽  
Rosa Ferrentino ◽  
Caterina Berti ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Novel Mutations ◽  
Opitz Syndrome

scholarly journals Brain Malformations Associated With Knobloch Syndrome—Review of Literature, Expanding Clinical Spectrum, and Identification of Novel Mutations

2014 ◽  
Vol 51 (6) ◽  
pp. 806-813.e8 ◽  
Author(s):  
Ahmet Okay Caglayan ◽  
Jacob F. Baranoski ◽  
Fesih Aktar ◽  
Wengi Han ◽  
Beyhan Tuysuz ◽  
...  
Keyword(s):  
Clinical Spectrum ◽  
Review Of Literature ◽  
Novel Mutations ◽  
Knobloch Syndrome ◽  
Brain Malformations

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
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