Mitochondrial disorder with a common 4977-bp deletion presenting as a novel multisystem neurodegenerative disorder.
Lane
H
H
Bermingham
N
N
Farrell
M A
MA
Redmond
J
J
Connolly
S
S
Brett
F M
FM
D000293:Adolescent; D001259:Ataxia / Q000209:etiology; D004272:DNA, Mitochondrial / Q000235:genetics; D017809:Fatal Outcome; D005260:Female; D017353:Gene Deletion; D006801:Humans; D008931:Mitochondria, Muscle / Q000235:genetics / Q000473:pathology; D028361:Mitochondrial Diseases / Q000150:complications* / Q000235:genetics* / Q000473:pathology; D019636:Neurodegenerative Diseases / Q000209:etiology* / Q000473:pathology; D009886:Ophthalmoplegia / Q000209:etiology; D012640:Seizures / Q000209:etiology
D004272:DNA, Mitochondrial