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Summary
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (PEOA6)
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6
615156
OMIM = Online Medalian Inheritance of Men
352470
10q21.3
very rare
autosomal dominant
mutation in the DNA2 gene
symptoms
apnea
dyspnea
exercise intolerance
gait disturbance
muscle atrophy
muscle cramps
muscle weakness
onset, adolescent
onset, childhood
ophthalmoplegia
pain, muscle
ptosis (drooping eyelid)
laboratory finding
Creatine kinase U/lserum
Literature
Sklirou E,Lichter-Konecki UInborn Errors of Metabolism with Cognitive Impairment: Metabolism Defects of Phenylalanine, Homocysteine and Methionine, Purine and Pyrimidine, and CreatinePediatr Clin North Am652267-2772018
dAcierno A,et al.The evolution of a Web resource: The Galactosemia Proteins Database 2.0Hum Mutat39152-602018
dAcierno A,et al.The evolution of a Web resource: The Galactosemia Proteins Database 2.0Hum Mutat39152-602018