Genetics of 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

Encyclopedia of Neurological Disorders: Mitochondrial Myopathies

Mitochondrial myopathies are a group of neuromuscular disorders that result from defects in the function of the mitochondrion, a small organelle located inside many cells that are responsible for fulfilling energy requirements of the tissue. These structures serve as "power plants" and are particularly important for providing energy for both muscle and brain function due to the large requiremen...

Diagnosis and treatment of mitochondrial myopathies

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 readershi...