Molecular genetic characterization of an X-linked form of Leigh's syndrome.
We report a patient with necrotizing encephalomyelopathy (Leigh's syndrome) associated with a deficiency of pyruvate dehydrogenase complex activity. The underlying mutation is an A to C transversion in the pyruvate dehydrogenase complex E1 alpha subunit gene. As the E1 alpha subunit is encoded on the X chromosome, this observation confirms that some patients with Leigh's syndrome may potentially exhibit X-linked inheritance.
Matthews
P M
PM
Department of Biochemistry, University of Oxford, UK.
Marchington
D R
DR
Squier
M
M
Land
J
J
Brown
R M
RM
Brown
G K
GK
D000595:Amino Acid Sequence; D001224:Aspartic Acid; D001483:Base Sequence; D001933:Brain Stem / Q000473:pathology; D002478:Cells, Cultured; D002585:Cesarean Section; D002950:Citrate (si)-Synthase / Q000378:metabolism; D004247:DNA / Q000235:genetics / Q000302:isolation & purification; D005091:Exons; D005347:Fibroblasts / Q000473:pathology / Q000502:physiology; D005865:Gestational Age; D006801:Humans; D007231:Infant, Newborn; D007888:Leigh Disease / Q000235:genetics* / Q000473:pathology; D007962:Leukocytes / Q000502:physiology; D008297:Male; D008929:Mitochondria, Heart / Q000201:enzymology; D008930:Mitochondria, Liver / Q000201:enzymology; D008969:Molecular Sequence Data; D009336:Necrosis; D009838:Oligodeoxyribonucleotides; D017354:Point Mutation; D011768:Pyruvate Dehydrogenase Complex / Q000235:genetics* / Q000378:metabolism; D012867:Skin / Q000473:pathology / Q000503:physiopathology; D014960:X Chromosome
D009838:Oligodeoxyribonucleotides; D011768:Pyruvate Dehydrogenase Complex; D001224:Aspartic Acid; D004247:DNA; D002950:Citrate (si)-Synthase