A novel mitochondrial 12SrRNA point mutation in parkinsonism, deafness, and neuropathy

The objective of this study was to determine whether a mitochondrial DNA mutation and defective oxidative phosphorylation are present in a pedigree with maternally inherited sensorineural deafness, levodopa‐responsive parkinsonism, and neuropathy. We sequenced the mitochondrial‐encoded ribosomal RNA...

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Veröffentlicht in:	Annals of neurology 2000-11, Vol.48 (5), p.730-736
Hauptverfasser:	Thyagarajan, Dominic, Bressman, Susan, Bruno, Claudio, Przedborski, Serge, Shanske, Sara, Lynch, Timothy, Fahn, Stanley, DiMauro, Salvatore
Format:	Artikel
Sprache:	eng
Schlagworte:	Biological and medical sciences DNA, Mitochondrial - genetics Female Genes, rRNA - genetics Hearing Loss, Sensorineural - genetics Humans Medical sciences Middle Aged Nervous system (semeiology, syndromes) Nervous system as a whole Nervous System Diseases - genetics Neurology Parkinsonian Disorders - genetics Pedigree Point Mutation - genetics Protein Structure, Secondary - genetics
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