MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MTDPS2)

rare (<1:1000000) autosomal recessive mutation in the mitochondrial thymidine kinase gene

Mitochondriales DNA-Depletionssyndrom, myopathische Form; MTDPS2

Thymidine kinase 2, mitochondrial

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MTDPS2)?

Accepted Answer

rare (<1:1000000)
autosomal recessive
mutation in the mitochondrial thymidine kinase gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom, myopathische Form; MTDPS2

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 609560

Question 4

Which enzymes are involved?

Accepted Answer

Thymidine kinase 2, mitochondrial

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MTDPS2)
Synonym	MITOCHONDRIAL DNA DEPLETION SYNDROME 2 (MYOPATHIC TYPE); MTDPS2
OMIM	609560 OMIM = Online Mendelian Inheritance of Men
Orphanet	254875
Protein (UniProt)	Thymidine kinase 2, mitochondrial
ExPASy	2.7.1.21
Gene locus	16q21
ICD	G71.3
Summary	rare (<1:1000000) autosomal recessive mutation in the mitochondrial thymidine kinase gene
Laboratory findings	Creatine kinase inc (serum) L-Lactic acid inc (plasma)
Symptoms	aminoaciduria defect of walking, running, rising or climbing hypotonia lactic acidosis muscle atrophy muscle weakness onset, childhood onset, infancy ophthalmoplegia respiratory insufficiency