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Diagnosis and treatment of mitochondrial myopathies

Lookup NU author(s): Dr Gerald Pfeffer, Professor Patrick Chinnery

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Abstract

Mitochondrial disorders are a heterogeneous group of disorders resulting from primary dysfunction of the respiratory chain. Muscle tissue is highly metabolically active, and therefore myopathy is a common element of the clinical presentation of these disorders, although this may be overshadowed by central neurological features. This review is aimed at a general medical and neurologist readership and provides a clinical approach to the recognition, investigation, and treatment of mitochondrial myopathies. Emphasis is placed on practical management considerations while including some recent updates in the field.

Publication metadata

Author(s): Pfeffer G, Chinnery PF

Publication type: Review

Publication status: Published

Journal: Annals of Medicine

Year: 2013

Volume: 45

Issue: 1

Pages: 4-16

Print publication date: 01/02/2013

Acceptance date: 15/08/2011

ISSN (print): 0785-3890

ISSN (electronic): 1365-2060

Publisher: INFORMA HEALTHCARE

URL: http://dx.doi.org/10.3109/07853890.2011.605389

DOI: 10.3109/07853890.2011.605389

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