Mitochondrial myopathy diagnosis.

Abstract:

:Oxidative phosphorylation (OXPHOS) accounts for approximately 95% of the adenosine triphosphate (ATP) produced by the cell. The central nervous system, peripheral nervous system, cardiac muscle, skeletal muscle, and smooth muscle are highly susceptible to dysfunction of this complex enzyme system. Although most OXPHOS diseases are multisystem disorders, the neuromuscular manifestations are often prominent and play an important role in patient diagnosis. To assist the neurologist in evaluating these complex patients, this article focuses on selected samples of OXPHOS diseases with identifiable neuromuscular abnormalities and presents an evaluation algorithm to facilitate patient diagnosis.

journal_name

Neurol Clin

journal_title

Neurologic clinics

authors

Shoffner JM

doi

10.1016/s0733-8619(05)70180-8

subject

Has Abstract

pub_date

2000-02-01 00:00:00

pages

105-23

issue

1

eissn

0733-8619

issn

1557-9875

pii

S0733-8619(05)70180-8

journal_volume

18

pub_type

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