PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (PEOA6)

Question 1

What is  PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (PEOA6)?

Accepted Answer

very rare

autosomal dominant

mutation in the DNA2 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 615156

Question 3

Which enzymes are involved?

Accepted Answer

DNA replication ATP-dependent helicase/nuclease DNA2

Disease	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA WITH MITOCHONDRIAL DNA DELETIONS, AUTOSOMAL DOMINANT 6 (PEOA6)
Synonym	PROGRESSIVE EXTERNAL OPHTHALMOPLEGIA, AUTOSOMAL DOMINANT 6
OMIM	615156 OMIM = Online Mendelian Inheritance of Men
Orphanet	352470
Protein (UniProt)	DNA replication ATP-dependent helicase/nuclease DNA2
Gene locus	10q21.3
ICD	G71.3
Summary	very rare autosomal dominant mutation in the DNA2 gene
Laboratory findings	Creatine kinase inc (serum)
Symptoms	apnea dyspnea exercise intolerance gait disturbance muscle atrophy muscle cramps muscle weakness onset, adolescent onset, childhood ophthalmoplegia pain, muscle ptosis (drooping eyelid)