Mitochondrial myopathies.

Genetics of Mitochondrial Myopathies

Pearson syndrome. Clinical spectrum of mitochondrial disorders is broad, so consensus diagnostic criteria for mitochondrial disorders have been proposed for children and adults. Sequence map of human mitochondrial genome with its normal and patho­ genic variants is publicly available. In this review, we will discuss genetic features of mitochondrial myopathies as well as their key findings. Rep...

Mitochondrial myopathies: developments in treatment.

PURPOSE OF REVIEW Treatment options for mitochondrial myopathies remain limited despite rapid advances in the understanding of the molecular basis of these conditions. Existing therapies continue to be evaluated and novel treatment strategies are starting to appear on the horizon. RECENT FINDINGS Exercise training continues to show promise as a method of improving exercise tolerance and enhan...

Pathology of Adult and Paediatric Mitochondrial Myopathies

Mitochondrial myopathies: defects in mitochondrial metabolism in human skeletal muscle.

An uncommon but increasingly diagnosed clinical situation in humans is mitochondrial myopathy, a condition in which muscle function is impaired by defective mitochondrial metabolism in the generation of energy for muscle contraction. It is also now clear that abnormalities of mitochondrial function are not limited to muscle, but may also underlie multisystem disease, in which other tissues are ...

Nord Guides for Physicians Mitochondrial Myopathies (mm)