Progressive external ophthalmoplegia (PEO): Presentation of a mitochondrial myopathy accompanied by electron microscope

[ X ]

Tarih

2010

Dergi Başlığı

Dergi ISSN

Cilt Başlığı

Yayıncı

Erişim Hakkı

info:eu-repo/semantics/closedAccess

Özet

Kearns-Sayre syndrome is a mitochondrial disease, presenting findings before the age of 20 and characterized by chronic progressive external ophthalmoplegia and pigmentary retinal degeneration. It affects many organs, resulting in a very wide spectrum of complications. In this work, a 24-year-old female, whose complaints first started at the age of 12, showing progressing external ophthalmoplegia and diagnosed with Kearns-Sayre disease following mitochondrial changes in muscle electron microscope investigation was presented. Ways of diagnosing in mitochondrial diseases, especially those in children were tried to be evaluated.

Açıklama

Anahtar Kelimeler

Electron Microscope, Kearns-Sayre Syndrome, Mitochondrial Diseases, Progressive External Ophthalmoplegia

Kaynak

Journal of International Dental and Medical Research

WoS Q Değeri

Scopus Q Değeri

Q3

Cilt

3

Sayı

3

Künye