Disorders Associated with Depletion of Mitochondrial DNA
作者:
Enzo Ricci,
Carlos T. Moraes,
Serenella Servidei,
Pietro Tonali,
Eduardo Bonilla,
Salvatore DiMauro,
期刊:
Brain Pathology
(WILEY Available online 1992)
卷期:
Volume 2,
issue 2
页码: 141-147
ISSN:1015-6305
年代: 1992
DOI:10.1111/j.1750-3639.1992.tb00682.x
出版商: Blackwell Publishing Ltd
数据来源: WILEY
摘要:
Quantitative defects of mtDNA have been recently described in patients with fatal mitochondrial disease of early infancy or mitochondrial myopathy of childhood. There was variable tissue expression and depletion of up to 98% of mtDNA in affected tissues. Pedigree analysis was compatible with mendelian inheritance, suggesting faulty communication between nuclear and mitochondrial genomes, but the primary molecular lesion is unknown. In muscle, morphological studies allowed to correlate mtDNA depletion, absence of mtDNA‐encoded peptides, mitochondrial proliferation, and loss of cytochrome c oxidase (COX) activity in individual fiber
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