First-line genomic diagnosis of mitochondrial disorders

mitochondrial disorders and diagnosis

mitochondrial generate cellular energy in the form of atp (adenosine triphosphate) by the process of oxidative phosphorylation (oxphos). most cells contain hundreds of mitochondrial.

Histochemical And Electron Microscopic Diagnosis Of Mitochondrial Myopathy: The First Case Report From Iran

  Muscle tissue, skeletal muscle as well as cardiac muscle, is commonly affected in mitochondrial disorders. One explanation for this observation is that muscle tissue has a high-energy demand and therefore is more sensitive to a deficiency of mitochondrial energy production than some other tissues. In mitochondrial disorders, skeletal muscle tissue may be affected primarily by defective respi...

Mitochondrial disorders: Challenges in diagnosis & treatment

Mitochondrial dysfunctions are known to be responsible for a number of heterogenous clinical presentations with multi-systemic involvement. Impaired oxidative phosphorylation leading to a decrease in cellular energy (ATP) production is the most important cause underlying these disorders. Despite significant progress made in the field of mitochondrial medicine during the last two decades, the mo...

Review Next generation molecular diagnosis of mitochondrial disorders

EFNS guidelines on the molecular diagnosis of mitochondrial disorders.

OBJECTIVES These European Federation of Neurological Sciences (EFNS) guidelines are designed to provide practical help for the general neurologist to make appropriate use of molecular genetics for diagnosing mitochondrial disorders (MIDs), which gain increasing attention and are more frequently diagnosed due to improved diagnostic tools. BACKGROUND Since the publication of the first EFNS guid...