Novel Mitochondrial C15620A Variant may Modulate the Phenotype of Mitochondrial G11778A Mutation in a Chinese Family with Leigh Syndrome

2013 ◽  
Vol 16 (1) ◽  
pp. 119-126 ◽  
Author(s):  
Kunqian Ji ◽  
Jinfan Zheng ◽  
Baoying Sun ◽  
Fuchen Liu ◽  
Jingli Shan ◽  
...  
Keyword(s):  
Leigh Syndrome ◽  
Chinese Family ◽  
G11778a Mutation

Clinical, Pathological, and Neuroimaging Analyses of Two Cases of Leigh Syndrome in a Chinese Family

2014 ◽  
Vol 29 (11) ◽  
pp. NP143-NP148 ◽  
Author(s):  
Taoran Jin ◽  
Hongrui Shen ◽  
Zhe Zhao ◽  
Jing Hu
Keyword(s):  
Leigh Syndrome ◽  
Chinese Family

The mitochondrial tRNAThr A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family

Gene ◽  
2006 ◽  
Vol 376 (1) ◽  
pp. 79-86 ◽  
Author(s):  
Ronghua Li ◽  
Jia Qu ◽  
Xiangtian Zhou ◽  
Yi Tong ◽  
Yongwu Hu ◽  
...  
Keyword(s):  
Phenotypic Expression ◽  
Chinese Family ◽  
G11778a Mutation

scholarly journals Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family

Mitochondrion ◽  
2007 ◽  
Vol 7 (1-2) ◽  
pp. 140-146 ◽  
Author(s):  
Jia Qu ◽  
Ronghua Li ◽  
Xiangtian Zhou ◽  
Yi Tong ◽  
Li Yang ◽  
...  
Keyword(s):  
Chinese Family ◽  
G11778a Mutation

420 A novel SCN5A mutation (R878C) associated with sick sinus syndrome in one Chinese family

2006 ◽  
Vol 5 (1) ◽  
pp. 98-98
Author(s):  
Y ZHANG ◽  
A MA ◽  
H WAN ◽  
C HUANG ◽  
X ZHOU ◽  
...  
Keyword(s):  
Sick Sinus Syndrome ◽  
Chinese Family ◽  
Scn5a Mutation

Leigh Syndrome: typical phenotype but atypical mitochondrial mutation – a case report

2010 ◽  
Vol 41 (02) ◽  
Author(s):  
K Lengnick ◽  
O Hasselmann ◽  
R Horváth ◽  
B Schoser ◽  
J Mayr ◽  
...  
Keyword(s):  
Case Report ◽  
Leigh Syndrome ◽  
Mitochondrial Mutation

Biotin-responsive basal ganglia disease: a treatable differential diagnosis of Leigh syndrome

2013 ◽  
Vol 44 (02) ◽  
Author(s):  
F Distelmaier ◽  
P Huppke ◽  
J Schaper ◽  
E Morava ◽  
E Mayatepek ◽  
...  
Keyword(s):  
Differential Diagnosis ◽  
Basal Ganglia ◽  
Leigh Syndrome ◽  
Basal Ganglia Disease
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