Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 2 (PEOA2)

Alias:

Peoa2

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 2

Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2

Chronic Progressive External Ophthalmoplegia

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 2

Progressive External Ophthalmoplegia, Autosomal Dominant 2

Autosomal Dominant Progressive External Ophthalmoplegia 2

Progressive External Ophthalmoplegia Autosomal Dominant 2

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 2, also known as peoa2, is related to mitochondrial myopathy 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 2 is SLC25A4 (Solute Carrier Family 25 Member 4). 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 ptosis and progressive external ophthalmoplegia

Related ID：

MALACARDS：PRG038

OMIM：609283

MESH：D017246