Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 (PEOA6)

Alias:

Mitochondrial Dna Deletion Syndrome with Progressive Myopathy

Peoa6

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant, 6

Autosomal Dominant Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 6

Mitochondrial Dna Deletion Syndrome with Limb-Girdle Weakness

Mtdna Deletion Syndrome with Limb-Girdle Weakness

Mtdna Deletion Syndrome with Progressive Myopathy

Dna2-Related Mitochondrial Dna Deletion Syndrome

Ophthalmoplegia, External, Progressive, with Mitochondrial Dna Deletions, Autosomal Dominant, Type 6

Progressive External Ophthalmoplegia, Autosomal Dominant 6

Autosomal Dominant Progressive External Ophthalmoplegia 6

Progressive External Ophthalmoplegia Autosomal Dominant 6

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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 6, also known as mitochondrial dna deletion syndrome with progressive myopathy, is related to seckel syndrome 8 and seckel syndrome, and has symptoms including muscle cramp, myalgia and dyspnea on exertion. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Dominant 6 is DNA2 (DNA Replication Helicase/Nuclease 2), and among its related pathways/superpathways are Mitochondrial iron-sulfur cluster biogenesis and Cytosolic iron-sulfur cluster assembly. Related phenotypes are progressive external ophthalmoplegia and limb-girdle muscle weakness

Related ID：

MALACARDS：PRG103

OMIM：615156

MESH：D017246