Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 (PEOA1)

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1(来自ICD-11)

别称:

Peoa1

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 1

Autosomal Dominant Progressive External Ophthalmoplegia 1

Chronic Progressive External Ophthalmoplegia

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 1

Progressive External Ophthalmoplegia, Autosomal Dominant 1

Progressive External Ophthalmoplegia Autosomal Dominant

Ocular Myopathy of Von Graefe-Fuchs

Mitochondrial Ocular Myopathy

Kearns-Sayre Syndrome

Graefe Disease

Cpeo

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1, also known as peoa1, is related to progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 and chronic progressive external ophthalmoplegia, and has symptoms including cerebellar ataxia, seizures and muscle weakness. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 1 is POLG (DNA Polymerase Gamma, Catalytic Subunit). The drugs 6-hydroxy-2,5,7,8-tetramethylchroman-2-carboxylic acid and Protective Agents have been mentioned in the context of this disorder. Affiliated tissues include skeletal muscle and eye, and related phenotypes are parkinsonism and bradykinesia

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