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Mitochondrial dysfunction and neuromuscular disease
Author(s) -
Nardin Rachel A.,
Johns Donald R.
Publication year - 2001
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/1097-4598(200102)24:2<170::aid-mus30>3.0.co;2-0
Subject(s) - mitochondrial myopathy , mitochondrial disease , subclinical infection , neuromuscular disease , disease , myopathy , medicine , mitochondrion , mitochondrial dna , neuroscience , bioinformatics , pathology , biology , genetics , gene
Mitochondrial diseases are a heterogeneous group of disorders with widely varying clinical features, due to defects in mitochondrial function. Involvement of both muscle and nerve is common in mitochondrial disease. In some cases, this involvement is subclinical or a minor part of a multisystem disorder, but myopathy and neuropathy are a major, often presenting, feature of a number of mitochondrial syndromes. In addition, mitochondrial dysfunction may play a role in a number of classic neuromuscular diseases. This article reviews the role of mitochondrial dysfunction in neuromuscular disease and discusses a rational approach to diagnosis and treatment of patients presenting with a neuromuscular syndrome due to mitochondrial disease. © 2001 John Wiley & Sons, Inc. Muscle Nerve 24: 170–191, 2001