adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency — Definition

DGUOK eksikliğine bağlı erişkin başlangıçlı multipl mitokondriyal DNA delesyon sendromu; dGUOK is a rare genetic disease characterized by multiple dementions in mitochondrial DNA. This syndrome, which occurs in the adult period, observed with neuromuscular symptoms such as muscle weakness, exercise intolerance and progressive oftalmoplegia. The disease is caused by the disorder in mitochondrial DNA reapplication and care, and often leads to oxidative phosphoruslation defect. Diagnostics, clinical findings are shown in mitochondrial DNA delicacy in muscle biopsy and are subject with DGUOK gene analysis.

The Turkish equivalent of "adult-onset multiple mitochondrial DNA deletion syndrome due to DGUOK deficiency" is DGUOK eksikliğine bağlı erişkin başlangıçlı multipl mitokondriyal DNA delesyon sendromu.

This term belongs to the Diseases category.