" /> Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1 - CISMeF





Preferred Label : Progressive external ophthalmoplegia with mitochondrial dna deletions, autosomal recessive 1;

Symbol : PEOB1;

CISMeF acronym : PEOB1;

Type : Phenotype, molecular basis known;

Alternative titles and symbols : Progressive external ophthalmoplegia, autosomal recessive 1;

Description : Progressive external ophthalmoplegia (PEO) is characterized by multiple mitochondrial DNA (mtDNA) deletions in skeletal muscle. The most common clinical features include adult-onset of weakness of the external eye muscles and exercise intolerance. Additional symptoms are variable, and may include cataracts, hearing loss, sensory axonal neuropathy, ataxia, depression, hypogonadism, and parkinsonism. Less common features include mitral valve prolapse, cardiomyopathy, and gastrointestinal dysmotility. Both autosomal dominant and autosomal recessive inheritance can occur; autosomal recessive inheritance is usually more severe (Filosto et al., 2003; Luoma et al., 2004). Drachman (1975) gave a classification of disorders associated with progressive external ophthalmoplegia, which he termed 'ophthalmoplegia plus' (Drachman, 1968).;

Inheritance : Autosomal recessive;

Molecular basis : Caused by mutation in the DNA polymerase-gamma gene (POLG, 174763.0002);

Laboratory abnormalities : Increased CSF protein; Increased creatine kinase, mild;

Prefixed ID : #258450;

Details


You can consult :


Nous contacter.
03/05/2025


[Home] [Top]

© Rouen University Hospital. Any partial or total use of this material must mention the source.