Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability.

Angebault, Claire

Mutation in NDUFA13/GRIM19 leads to early onset hypotonia, dyskinesia and sensorial deficiencies, and mitochondrial complex I instability. [electronic resource] - Human molecular genetics Jul 2015 - 3948-55 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1460-2083

10.1093/hmg/ddv133 doi


Apoptosis Regulatory Proteins--genetics
Child
Child, Preschool
Dyskinesias--genetics
Electron Transport Complex I--deficiency
Female
Follow-Up Studies
Humans
Image Processing, Computer-Assisted
Magnetic Resonance Imaging
Mitochondrial Diseases--genetics
Muscle Hypotonia--genetics
Mutation
NADH, NADPH Oxidoreductases--genetics
Open Reading Frames
Pedigree