Mitochondrial Pathologies and Their Neuromuscular Manifestations

Authored by: Carlos Ortez , Andrés Nascimento

Handbook of Mitochondrial Dysfunction

Print publication date:  June  2019
Online publication date:  May  2019

Print ISBN: 9781138336087
eBook ISBN: 9780429443336
Adobe ISBN:

10.1201/9780429443336-28

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Abstract

Mitochondrial diseases (MiDs) exhibit significant clinical and genetic heterogeneity. Mitochondria are highly dynamic organelles that are the major contributor of ATP, via oxidative phosphorylation (OXPHOS). The disorders may develop at any age, with isolated or multiple systems’ involvement, and in any pattern of inheritance. Defects in the mitochondrial respiratory chain impair energy production and almost invariably involve skeletal muscle and peripheral nerves, causing exercise intolerance, cramps, recurrent myoglobinuria, or fixed weakness, which often affects extra ocular muscles and results in droopy eyelids (ptosis), progressive external ophthalmoplegia, peripheral ataxia and peripheral polyneuropathy.

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