MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14?

Accepted Answer

very rare

mutation in the OPA1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom 14; MTDPS14

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 616896

Question 4

Which enzymes are involved?

Accepted Answer

Dynamin-like 120 kDa protein, mitochondrial

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 14 (CARDIOENCEPHALOMYOPATHIC TYPE); MTDPS14
OMIM	616896 OMIM = Online Mendelian Inheritance of Men
Orphanet	---
Protein (UniProt)	Dynamin-like 120 kDa protein, mitochondrial
Gene locus	3q29
ICD
Summary	very rare mutation in the OPA1 gene
Laboratory findings	Alanine inc (plasma) L-Lactic acid normal/inc (cerebrospinal fluid) L-Lactic acid inc (blood)
Symptoms	apnea cardiomyopathy cardiomyopathy, hypertrophic early death encephalopathy failure to thrive hearing defect, deafness hypertonia, spasticity hypotonia muscle weakness onset, infancy onset, neonatal optic atrophy