TY  - GEN
AU  - Angebault,Claire
AU  - Charif,Majida
AU  - Guegen,Naig
AU  - Piro-Megy,Camille
AU  - Mousson de Camaret,Benedicte
AU  - Procaccio,Vincent
AU  - Guichet,Pierre-Olivier
AU  - Hebrard,Maxime
AU  - Manes,Gael
AU  - Leboucq,Nicolas
AU  - Rivier,François
AU  - Hamel,Christian P
AU  - Lenaers,Guy
AU  - Roubertie,Agathe
TI  - Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability
SN  - 1460-2083
PY  - 2016///0428
KW  - Apoptosis Regulatory Proteins
KW  - genetics
KW  - Child
KW  - Child, Preschool
KW  - Dyskinesias
KW  - Electron Transport Complex I
KW  - deficiency
KW  - Female
KW  - Follow-Up Studies
KW  - Humans
KW  - Image Processing, Computer-Assisted
KW  - Magnetic Resonance Imaging
KW  - Mitochondrial Diseases
KW  - Muscle Hypotonia
KW  - Mutation
KW  - NADH, NADPH Oxidoreductases
KW  - Open Reading Frames
KW  - Pedigree
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/ddv133
ER  -