title: G8363A mutation in the mitochondrial DNA transfer ribonucleic acidLys gene: another cause of Leigh syndrome.
abstract: We identified a G-->A transition at nt-8363 in the mitochondrial DNA transfer ribonucleic acidLys gene in blood and muscle from a 13-month-old girl who had clinical and neuroradiologic evidence of Leigh syndrome and died at age 27 months. The mutation was less abundant in the same tissues from the patient's mother, who developed myoclonus epilepsy with ragged red fibers (MERRF) in her late 20s. In both mother and daughter, muscle histochemistry showed ragged red and cytochrome c oxidase-negative fibers and biochemical analysis showed partial defects of multiple respiratory-chain enzymes. A maternal half-sister of the proband had died at 2.5 years of age from neuropathologically proven Leigh syndrome. The G8363A mutation, which previously had been associated with cardiomyopathy and hearing loss, MERRF, and multiple lipomas, also should be included in the differential diagnosis of maternally inherited Leigh syndrome.
authors: H. Houston Merrit Clinical Research Center for Muscular Dystrophy and Related Diseases, Department of Neurology, Columbia University College of Physicians and Surgeons, New York, New York, USA.
authors: A
authors: A
authors: Shtilbans
authors: S
authors: S
authors: Shanske
authors: S
authors: S
authors: Goodman
authors: C M
authors: CM
authors: Sue
authors: C
authors: C
authors: Bruno
authors: T L
authors: TL
authors: Johnson
authors: N S
authors: NS
authors: Lava
authors: N
authors: N
authors: Waheed
authors: S
authors: S
authors: DiMauro
mesh_terms: D000328:Adult; D002675:Child, Preschool; D004272:DNA, Mitochondrial / Q000235:genetics*; D003937:Diagnosis, Differential; D003576:Electron Transport Complex IV / Q000032:analysis; D017809:Fatal Outcome; D005260:Female; D005838:Genotype; D006801:Humans; D007150:Immunohistochemistry; D007223:Infant; D007888:Leigh Disease / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017243:MERRF Syndrome / Q000150:complications / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D018485:Muscle Fibers, Skeletal / Q000737:chemistry / Q000473:pathology*; D018482:Muscle, Skeletal / Q000473:pathology; D020125:Mutation, Missense; D010375:Pedigree; D012357:RNA, Transfer, Lys / Q000235:genetics*
chemical_list: D004272:DNA, Mitochondrial; D012357:RNA, Transfer, Lys; D003576:Electron Transport Complex IV