PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (PEO)

Question 1

What is  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (PEO)?

Accepted Answer

rare
autosomal recessive
mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG)

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Autosomal-rezessive progressive externe Ophthalmoplegie

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 258450

Question 4

Which enzymes are involved?

Accepted Answer

DNA polymerase subunit gamma-1

Disease	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS (PEO)
Synonym	PEOB1
OMIM	258450 OMIM = Online Mendelian Inheritance of Men
Orphanet	254886
Protein (UniProt)	DNA polymerase subunit gamma-1
Gene locus	15q26.1
ICD	H49.4
Summary	rare autosomal recessive mutation in the nuclear-encoded DNA polymerase-gamma gene (POLG)
Laboratory findings	2-Deoxyuridine inc (plasma) 2-Deoxyuridine inc (urine) Creatine kinase normal/inc (plasma) Protein inc (cerebrospinal fluid)
Symptoms	ataxia blindness, visual loss, visual impairment cardiomyopathy depression dysarthria dysphagia EMG abnormalities [-] exercise intolerance gastrointestinal dysmotility muscle weakness onset, adulthood ophthalmoplegia optic atrophy ptosis (drooping eyelid) valvular heart disease