[Diagnostic investigations of mitochondrial diseases with neurological symptoms]

K Auré; A Lombès

doi:10.1016/s0035-3787(07)90400-2

[Diagnostic investigations of mitochondrial diseases with neurological symptoms]

Rev Neurol (Paris). 2007 Feb;163(2):254-63. doi: 10.1016/s0035-3787(07)90400-2.

[Article in French]

Authors

K Auré¹, A Lombès

Affiliation

¹ Institut National de la Santé et de la Recherche Médicale, U582-Université Pierre et Marie Curie, AP HP, CHU Pitié-Salpêtrière, Institut de Myologie, Paris, France.

PMID: 17351548
DOI: 10.1016/s0035-3787(07)90400-2

Abstract

Mitochondrial respiratory chain abnormalities are a cause of neuromuscular diseases. They present with very diverse clinical presentations,involving either the central nervous system, the peripheral nervous system, or skeletal muscle, and may be due to mutations either in mitochondrial or nuclear genome. The aim of this review is to familiarise the clinician with these diseases, to evoke main syndromes, and to give guidelines for their diagnostic investigation.

Publication types

English Abstract
Review

MeSH terms

Algorithms
Biopsy
DNA, Mitochondrial / genetics
Disease Management
Electron Transport
Female
Genes, Mitochondrial
Humans
Magnetic Resonance Imaging
Male
Mitochondrial Diseases / classification
Mitochondrial Diseases / complications
Mitochondrial Diseases / diagnosis*
Mitochondrial Diseases / genetics
Mitochondrial Diseases / therapy
Mitochondrial Encephalomyopathies / diagnosis
Mitochondrial Encephalomyopathies / pathology
Mitochondrial Encephalomyopathies / therapy
Mitochondrial Myopathies / diagnosis
Mitochondrial Myopathies / genetics
Muscle, Skeletal / pathology
Nervous System Diseases / etiology*
Nervous System Diseases / therapy
Oxidative Phosphorylation
Sequence Deletion
Syndrome

Substances

DNA, Mitochondrial