Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 (PEOB4)

Alias:

Adult-Onset Multiple Mitochondrial Dna Deletion Syndrome Due to Dguok Deficiency

Peob4

Adult-Onset Multiple Mtdna Deletion Syndrome Due to Dguok Deficiency

Progressive External Ophthalmoplegia, Autosomal Recessive 4

Autosomal Recessive Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions 4

Progressive External Ophthalmoplegia with Mi Dna Deletions, Autosomal Recessive 4

Autosomal Recessive Progressive External Ophthalmoplegia 4

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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 4, also known as adult-onset multiple mitochondrial dna deletion syndrome due to dguok deficiency, is related to portal hypertension, noncirrhotic, 1 and mitochondrial dna depletion syndrome 3. An important gene associated with Progressive External Ophthalmoplegia with Mitochondrial Dna Deletions, Autosomal Recessive 4 is DGUOK (Deoxyguanosine Kinase). Affiliated tissues include skeletal muscle and eye, and related phenotypes are dysphagia and progressive external ophthalmoplegia

Related ID：

MALACARDS：PRG128

OMIM：617070

MESH：D017246