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Erişkin Başlangıçlı Pür Mitokondrial Miyopati

Early Pur Mitochondrial Myopathy in Adult

Journal Name:

  • Selçuk Tıp Dergisi

Publication Year:

  • 2011

Key Words:

Keywords (Original Language):

Author NameUniversity of Author
Abstract (2. Language): 
Mitochondrial disease usually occur as a result at mitochondrial DNA (mtDNA) or nucleer DNA (nDNA) mutations.Findigs in mitochondrial myopathy are often limited with skeletel muscle symptoms, slowly progresive muscle weaknes at extremites and oftalmoplegy due to extaoculer muscle weaknes are common. Muscle weaknes is prominent in the proximal muscles but distal muscle involvement is propable. In this article, we present a patient diagnosed as adult onset mitochondrial myopathy with slow progress in 10 years , regged red fibers in muscle biopsy and isolated muscle involvement
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Abstract (Original Language): 
Mitokondriyal hastalıklar genellikle mltokondrlyal DNA (mtDNA) veya nükleer DNA (nDNA) mutasyonları sonucu gelişir. Mitokondriyal miyopatide bulgular sıklıkla iskelet kası ile sınırlı olup, ekstremitelere ait yavaş ilerleyici kas güçsüzlüğü yanısıra ekstraoküler kas zayıflığına bağlı oftalmoplejiye sık rastlanır. Kas güçsüzlüğü özellikle proksimal kaslarda belirgin olmakla birlikte distal tutulum da görülebilir. Biz bu yazıda son 10 yıl içerisinde yavaş ilerleme gösteren, izole kas tutulumu ile seyreden ve kas biyopsisi sonucunda ragged red lifler saptanan erişkin başlangıçlı mitokondriyal miyopati tanısı konulan bir vakayı sunduk.
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  • 4
231-232
  • Turkish

REFERENCES

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