MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11

Question 1

What is  MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11?

Accepted Answer

rare

autosomal recessive

mutation in the MGME1 gene

Question 2

Gibt es eine deutsche Bezeichnung?

Accepted Answer

Mitochondriales DNA-Depletionssyndrom 11; MTDPS11

Question 3

What is the link to OMIM ?

Accepted Answer

OMIN 615084

Question 4

Which enzymes are involved?

Accepted Answer

Mitochondrial genome maintenance exonuclease 1

Disease	MITOCHONDRIAL DNA DEPLETION SYNDROME 11; MTDPS11
OMIM	615084 OMIM = Online Mendelian Inheritance of Men
Orphanet	352447
Protein (UniProt)	Mitochondrial genome maintenance exonuclease 1
Gene locus	20p11.23
ICD	G71.3
Summary	rare autosomal recessive mutation in the MGME1 gene
Laboratory findings	Creatine kinase inc (serum)
Symptoms	dysphagia exercise intolerance intellectual disability/intellectual developmental disorder muscle weakness ophthalmoplegia ptosis (drooping eyelid) weight loss ataxia cardiac arrhythmia, dysrhythmia cardiomyopathy cardiomyopathy, dilated cerebellar atrophy or hypoplasia diarrhea dyspnea emaciation hypogonadism hyporeflexia infections (severe or recurrent) mental retardation microcephaly (<2 SD for age) muscle atrophy nausea onset, adolescent onset, childhood respiratory insufficiency speech development, delayed, abnormal