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Summary
PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (PEO)
PEOB1
258450
OMIM = Online Medalian Inheritance of Men
254886
15q26.1
rare
autosomal recessive
symptoms
ataxia
blindness, visual loss, visual impairment
cardiomyopathy
depression
dysarthria
dysphagia
exercise intolerance
gastrointestinal dysmotility
muscle weakness
onset, adulthood
ophthalmoplegia
optic atrophy
ptosis (drooping eyelid)
valvular heart disease
laboratory finding
EMG abnormalities - ---
Creatine kinase normal-increasedplasma
Protein increasedcerebrospinal fluid
Literature
Pischik E,Kauppinen RAn update of clinical management of acute intermittent porphyriaAppl Clin Genet80201-2142015