MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (MC1DN31)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (MC1DN31)?

Accepted Answer

very rare

autosomal recessive

mutation in the TIMMDC1 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618251

Question 3

Which enzymes are involved?

Accepted Answer

Complex I assembly factor TIMMDC1, mitochondrial

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 31 (MC1DN31)
Synonym	TIMMDC1
OMIM	618251 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	Complex I assembly factor TIMMDC1, mitochondrial
Gene locus	3q13.33
ICD	G71.3
Summary	very rare autosomal recessive mutation in the TIMMDC1 gene
Laboratory findings
Symptoms	abnormal movement developmental delay early death failure to thrive hearing defect, deafness hypotonia MRI, brain, abnormalities [-] neurological deterioration nystagmus onset, infancy peripheral neuropathy seizures white matter changes, abnormalities