TY  - GEN
AU  - Blok,M J
AU  - Spruijt,L
AU  - de Coo,I F M
AU  - Schoonderwoerd,K
AU  - Hendrickx,A
AU  - Smeets,H J
TI  - Mutations in the ND5 subunit of complex I of the mitochondrial DNA are a frequent cause of oxidative phosphorylation disease
SN  - 1468-6244
PY  - 2007///0514
KW  - Amino Acid Sequence
KW  - Animals
KW  - Brain
KW  - abnormalities
KW  - Child
KW  - Chromatography, High Pressure Liquid
KW  - DNA Mutational Analysis
KW  - DNA, Mitochondrial
KW  - genetics
KW  - Diseases in Twins
KW  - Electron Transport Complex I
KW  - chemistry
KW  - Fatal Outcome
KW  - Female
KW  - Genetic Testing
KW  - Humans
KW  - Hydrophobic and Hydrophilic Interactions
KW  - Infant, Newborn
KW  - Leigh Disease
KW  - MELAS Syndrome
KW  - Male
KW  - Mitochondria, Muscle
KW  - enzymology
KW  - Mitochondrial Diseases
KW  - Mitochondrial Proteins
KW  - Molecular Sequence Data
KW  - Mutation, Missense
KW  - Oxidative Phosphorylation
KW  - Phenotype
KW  - Protein Subunits
KW  - Sequence Alignment
KW  - Sequence Homology, Amino Acid
N1  - Publication Type: Case Reports; Journal Article
UR  - https://doi.org/10.1136/jmg.2006.045716
ER  -