Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 (PEOB2)

Alias:

Adult-Onset Chronic Progressive External Ophthalmoplegia with Mitochondrial Myopathy

Peob2

Adult-Onset Cpeo with Mitochondrial Myopathy

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

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 2

Progressive External Ophthalmoplegia, Autosomal Recessive 2

Autosomal Recessive Progressive External Ophthalmoplegia 2

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Basic Information

Medical Symptom

Gene & Mutation

Related Drugs

Disease Model

References Literature

Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2, also known as adult-onset chronic progressive external ophthalmoplegia with mitochondrial myopathy, is related to mitochondrial dna depletion syndrome 6 and mitochondrial dna depletion syndrome. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 2 is RNASEH1 (Ribonuclease H1). Affiliated tissues include eye and skeletal muscle, and related phenotypes are progressive external ophthalmoplegia and limb muscle weakness

Related ID：

MALACARDS：PRG102

OMIM：616479

MESH：D017246