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GENATLAS PHENOTYPE

last update : 30-04-2013

Symbol	PEOA6
Location	10q21.3
Name	progressive external ophthalmoplegia with mitochondrial DNA deletions 6
Corresponding gene	DNA2
Main clinical features	muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance, and mitochondrial DNA (mtDNA) deletions on muscle biopsy symptoms may appear in childhood or adulthood and show slow progression
Genetic determination	autosomal dominant
Function/system disorder
Type	disease

Remark(s)