PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (PEOB2)

Question 1

What is  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (PEOB2)?

Accepted Answer

very rare

autosomal recessive

mutation in the RNASEH1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 616479

Question 3

Which enzymes are involved?

Accepted Answer

Ribonuclease H1

Disease	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL RECESSIVE 2 (PEOB2)
Synonym	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL RECESSIVE 2
OMIM	616479 OMIM = Online Mendelian Inheritance of Men
Orphanet	329336
Protein (UniProt)	Ribonuclease H1
Gene locus	2p25.3
ICD	G71.3
Summary	very rare autosomal recessive mutation in the RNASEH1 gene
Laboratory findings	Creatine kinase normal/inc (serum) L-Lactic acid inc (serum)
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment dysphagia exercise intolerance fatigue, severe or unusual gait disturbance hyperreflexia muscle atrophy muscle weakness neuropathy onset, adulthood ophthalmoplegia pain, muscle progressive neurologic defect ptosis (drooping eyelid) pyramidal signs respiratory insufficiency