mitochondrial disorders: clinical, pathologic and genetic classification
نویسندگان
چکیده
pls see pdf.
منابع مشابه
Molecular genetic and clinical aspects of mitochondrial disorders in childhood.
Mitochondrial OXPHOS disorders are caused by mutations in mitochondrial or nuclear genes, which directly or indirectly affect mitochondrial oxidative phosphorylation (OXPHOS). Primary mtDNA abnormalities in children are due to rearrangements (deletions or duplications) and point mutations or insertions. Mutations in the nuclear-encoded polypeptide subunits of OXPHOS result in complex I and II d...
متن کاملMitochondrial Genetic Disorders: Challenges & Opportunities
Due to the close proximity of the mitochondrial genome to the respiratory chain complex producing ATP, it is believed to be more susceptible to get damaged by the reactive oxygen species (ROS) than nuclear DNA. In addition to this, the poorly developed mitochondrial DNA (mtDNA) repair machinery and the lack of protective histones, unlike in nuclear genome are also believed to be the major facto...
متن کاملGenetic Testing for Mitochondrial Disorders
©2016 Blue Cross and Blue Shield of Louisiana An independent licensee of the Blue Cross and Blue Shield Association No part of this publication may be reproduced, stored in a retrieval system, or transmitted, in any form or by any means, electronic, mechanical, photocopying, or otherwise, without permission from Blue Cross and Blue Shield of Louisiana. Page 1 of 14 Applies to all products admin...
متن کاملTime to move beyond clinical and pathologic classification of BAC.
Although the World Health Organization defines BAC as a distinct entity, it is now clear that BAC in fact represents a heterogeneous group of diseases with shared pathologic characteristics but distinct molecular aberrations and varying clinical courses and outcomes. Historically, studies have lumped all adenocarcinomas with lepidic growth patterns into the same category, including both pure BA...
متن کاملGangliocytomas and Gangliogliomas: Review of Clinical, Pathologic and Genetic Features
Gangliocytomas and Gangliogliomas are well-differentiated, slowly growing neuroepithelial tumors, composed of neoplastic, mature ganglion cells alone or in combination with neoplastic glial cells, respectively. Surgical resection is the standard of care, radiation used for malignant features or unresectable tumors. The epidemiology, clinical, pathologic and genetic features of these rare primar...
متن کاملGenetic features of mitochondrial respiratory chain disorders.
Oxidative phosphorylation, i.e., ATP synthesis by the oxygen-consuming respiratory chain (RC), supplies most organs and tissues with a readily usable energy source, being functional before birth. Consequently, RC deficiencies can theoretically give rise to any symptom, in any organ or tissue, at any age and with any mode of inheritance, because of the twofold genetic origin of RC components (nu...
متن کاملمنابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
عنوان ژورنال:
iranian journal of child neurologyجلد ۷، شماره ۴، صفحات ۵-۷
کلمات کلیدی
میزبانی شده توسط پلتفرم ابری doprax.com
copyright © 2015-2023