TY  - GEN
AU  - Jonckheere,A I
AU  - Hogeveen,M
AU  - Nijtmans,L G J
AU  - van den Brand,M A M
AU  - Janssen,A J M
AU  - Diepstra,J H S
AU  - van den Brandt,F C A
AU  - van den Heuvel,L P
AU  - Hol,F A
AU  - Hofste,T G J
AU  - Kapusta,L
AU  - Dillmann,U
AU  - Shamdeen,M G
AU  - Smeitink,J A M
AU  - Rodenburg,R J T
TI  - A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy
SN  - 1468-6244
PY  - 2008///0403
KW  - Adolescent
KW  - Amino Acid Sequence
KW  - Base Sequence
KW  - Cardiomyopathy, Hypertrophic
KW  - enzymology
KW  - Codon, Nonsense
KW  - DNA Primers
KW  - genetics
KW  - Genes, Mitochondrial
KW  - Humans
KW  - Hybrid Cells
KW  - Male
KW  - Mitochondrial Diseases
KW  - Mitochondrial Proton-Translocating ATPases
KW  - chemistry
KW  - Molecular Sequence Data
KW  - Nervous System Diseases
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jmg.2007.052084
ER  -