MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (MTDPS17)

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (MTDPS17)?

Accepted Answer

very rare (1 patient)

mutation in the MRM2 gene

MELAS-like syndrome [Garone C 2017]

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618567

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (MTDPS17)
OMIM	618567 OMIM = Online Mendelian Inheritance of Men
Gene locus	7p22.3
ICD
Summary	very rare (1 patient) mutation in the MRM2 gene MELAS-like syndrome [Garone C 2017]
Laboratory findings	Citrulline normal/dec (plasma)
Symptoms	cerebellar atrophy or hypoplasia developmental delay dyskinesia EEG abnormalities [-] encephalopathy MRI, brain, abnormalities [-] myopathy onset, childhood seizures status epilepticus strokelike episodes