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Summary
MITOCHONDRIAL DNA DEPLETION SYNDROME 17 (MTDPS17)
618567
OMIM = Online Medalian Inheritance of Men
7p22.3
very rare (1 patient)
mutation in the MRM2 gene
MELAS-like syndrome [Garone C 2017]
symptoms
cerebellar atrophy or hypoplasia
developmental delay
dyskinesia
encephalopathy
myopathy
onset, childhood
seizures
status epilepticus
strokelike episodes
laboratory finding
MRI, brain, abnormalities -
EEG abnormalities -
Citrulline 9.00 +€mol/lplasma
Literature