26 A novel mitochondrial ATP 8 (MT-ATP8) gene mutation in a patient with neuropathy and cardiomyopathy

Mitochondrion ◽  
2007 ◽  
Vol 7 (6) ◽  
pp. 411 ◽  
Author(s):  
A.I. Jonckheere ◽  
M. Hogeveen ◽  
L.G.J. Nijtmans ◽  
M.A. van den Brand ◽  
A.J.M. Janssen ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Atp8 Gene

scholarly journals A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

2007 ◽  
Vol 45 (3) ◽  
pp. 129-133 ◽  
Author(s):  
A I Jonckheere ◽  
M Hogeveen ◽  
L G J Nijtmans ◽  
M A M van den Brand ◽  
A J M Janssen ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Apical Hypertrophic Cardiomyopathy ◽  
Atp8 Gene

A novel ATP8 gene mutation in an infant with tetralogy of Fallot

2013 ◽  
Vol 24 (3) ◽  
pp. 531-533 ◽  
Author(s):  
Turkan Tansel ◽  
Ferda Paçal ◽  
Duran Ustek
Keyword(s):  
Mitochondrial Dna ◽  
Next Generation Sequencing ◽  
Missense Mutation ◽  
Tetralogy Of Fallot ◽  
Gene Mutation ◽  
Mitochondrial Dna Mutation ◽  
Dna Mutation ◽  
Atp8 Gene ◽  
Generation Sequencing ◽  
Hereditary Optic Neuropathy

AbstractWe report the case of a novel mitochondrial DNA mutation in the MT-ATP8 gene in an infant with tetralogy of Fallot. Next-generation sequencing was applied to sequence whole mitochondrial DNA of the patient. A known Leber's hereditary optic neuropathy-associated mutation (G9804A), a heteroplasmic T7501C mutation (17%), and a novel C8481 T Pro > Leu missense mutation in the MT-ATP8 gene was identified.

scholarly journals A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy

2009 ◽  
Vol 2009 (jan21 1) ◽  
pp. bcr0720080504-bcr0720080504 ◽  
Author(s):  
A. I Jonckheere ◽  
M. Hogeveen ◽  
L. Nijtmans ◽  
M. van den Brand ◽  
A. Janssen ◽  
...  
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Gene Mutation ◽  
Apical Hypertrophic Cardiomyopathy ◽  
Atp8 Gene

Abstract #703: An Adult Patient with Severe Hypocalciuric Hypercalcemia with Negative Casr Gene Mutation

2015 ◽  
Vol 21 ◽  
pp. 124-125
Author(s):  
Grace Kim ◽  
Michael Marchese ◽  
Hassan Shawa ◽  
Matthew Leinung ◽  
Sara Clark
Keyword(s):  
Adult Patient ◽  
Gene Mutation ◽  
Casr Gene

SCREENING OF FSH RECEPTOR GENE MUTATION (C566T) IN AZOOSPERMIC MEN IN JAPAN

2006 ◽  
Vol 52 (1) ◽  
pp. 15-19 ◽  
Author(s):  
T. Ishikawa ◽  
M. Fujisawa ◽  
J. Tapanainen
Keyword(s):  
Gene Mutation ◽  
Receptor Gene ◽  
Fsh Receptor ◽  
Fsh Receptor Gene

A frequent gene mutation associated with autosomal dominant Parkinson's disease

The Lancet ◽  
2005 ◽  
Vol 365 (9457) ◽  
pp. 412-415 ◽  
Author(s):  
A DIFONZO ◽  
C ROHE ◽  
J FERREIRA ◽  
H CHIEN ◽  
L VACCA ◽  
...  
Keyword(s):  
Parkinson’S Disease ◽  
Parkinson's Disease ◽  
Gene Mutation ◽  
Autosomal Dominant
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