TY  - GEN
AU  - Nazli,Aisha
AU  - Safdar,Adeel
AU  - Saleem,Ayesha
AU  - Akhtar,Mahmood
AU  - Brady,Lauren I
AU  - Schwartzentruber,Jeremy
AU  - Tarnopolsky,Mark A
TI  - A mutation in the TMEM65 gene results in mitochondrial myopathy with severe neurological manifestations
SN  - 1476-5438
PY  - 2017///0912
KW  - Cell Respiration
KW  - Cells, Cultured
KW  - Child, Preschool
KW  - Female
KW  - Fibroblasts
KW  - metabolism
KW  - Humans
KW  - Membrane Proteins
KW  - genetics
KW  - Mitochondrial Encephalomyopathies
KW  - Mitochondrial Membranes
KW  - Mitochondrial Proteins
KW  - Mutation
KW  - Oxygen
KW  - RNA Splicing
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1038/ejhg.2017.20
ER  -