Peripheral neuropathy with ataxia in childhood as a result of the G8363A mutation in mitochondrial DNA

Peripheral neuropathy has been identified in children with mitochondrial encephalomyopathies but not as a main clinical landmark. Here we report the clinical, electrophysiologic, biochemical, and genetic findings in a family who harbors the G8363A mutation in the tRNALys gene of mitochondrial DNA. A...

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Veröffentlicht in:	Pediatric research 2004-07, Vol.56 (1), p.55-59
Hauptverfasser:	PINEDA, Mercedes, SOLANO, Abelardo, ARTUCH, Rafael, ANDREU, Antonio L, PLAYAN, Ana, VILASECA, Maria A, COLOMER, Jaime, BRIONES, Paz, CASADEMONT, Jordi, MONTOYA, Julio
Format:	Artikel
Sprache:	eng
Schlagworte:	Adolescent Adult Ataxia - genetics Ataxia - pathology Biological and medical sciences Biopsy Child DNA, Mitochondrial - genetics Female Fundamental and applied biological sciences. Psychology General aspects Genetics of eukaryotes. Biological and molecular evolution Humans Male Medical sciences Mitochondrial Diseases - genetics Mitochondrial Diseases - pathology Molecular and cellular biology Muscle, Skeletal - pathology Pedigree Peripheral Nervous System Diseases - genetics Peripheral Nervous System Diseases - pathology Point Mutation Polymorphism, Restriction Fragment Length
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