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Definition

A form of progressive external ophthalmoplegia, a mitochondrial myopathy characterized by progressive paralysis of the levator palpebrae, orbicularis oculi, and extraocular muscles. PEOB4 patients manifest clinically variable features including mitochondrial myopathy with or without progressive external ophthalmoplegia, recurrent rhabdomyolysis, and adult-onset lower motor neuron syndrome with mild cognitive impairment.

Acronym

PEOB4

Synonyms

Progressive external ophthalmoplegia, autosomal recessive 4

Keywords

Progressive external ophthalmoplegia