MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B?

Accepted Answer

rare

autosoma recessive

mutation in the SLC25A4 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom 12B; MTDPS12B

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615418

Question 4

Which enzymes are involved?

Accepted Answer

ADP/ATP translocase 1

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 12B (CARDIOMYOPATHIC TYPE), AUTOSOMAL RECESSIVE; MTDPS12B
OMIM	615418 OMIM = Online Mendelian Inheritance of Men
Orphanet	1369
Protein (UniProt)	ADP/ATP translocase 1
Gene locus	4q35.1
ICD
Summary	rare autosoma recessive mutation in the SLC25A4 gene
Laboratory findings	L-Lactic acid inc (blood)
Symptoms	cardiomyopathy cardiomyopathy, hypertrophic cataract exercise intolerance lactic acidosis muscle atrophy muscle weakness obesity onset, childhood pain, muscle