Mitochondrial Encephalomyopathies and Related Syndromes: Brief Review

被引：6
|
作者：
Bertini, Enrico [1 ]
D'Amico, Adele [1 ]
机构：
[1] Bambino GesuChildrens Res Hosp, Unit Mol Med Neuromuscular & Neurodegenerat Disor, Dept Lab Med, IT-00165 Rome, Italy
来源：
ENDOCRINE INVOLVEMENT IN DEVELOPMENTAL SYNDROMES | 2009年 / 14卷
关键词：
PHOSPHORYLASE GENE-MUTATIONS; KEARNS-SAYRE-SYNDROME; LEIGH-SYNDROME; DNA DEPLETION; NAVAJO NEUROHEPATOPATHY; TRANSLATION; INVOLVEMENT; DEFICIENCY; DISORDERS; DISEASES;
D O I：
10.1159/000207439
中图分类号：
Q [生物科学];
学科分类号：
07 ; 0710 ; 09 ;
摘要：
A brief and comprehensive review on mitochondrial cytopathies is reported showing the extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial cytopathies encompass most of the medical specialties and diagnosis of mitochondrial cytopathies is complicated, needing the combination of multiple expertise: muscle morphology, neuroradiology, biochemistry (enzymology, chemical analysis), and genetics. Copyright (C) 2009 S. Karger AG, Basel
引用
收藏
页码：38 / 52
页数：15
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