MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (MC1DN23)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (MC1DN23)?

Accepted Answer

very rare

autosomal recessive

mutation in the NDUFA12 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618244

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 23 (MC1DN23)
Synonym	NDUFA12
OMIM	618244 OMIM = Online Mendelian Inheritance of Men
Orphanet	255241
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex subunit 12
Gene locus	12q22
ICD	G31.8
Summary	very rare autosomal recessive mutation in the NDUFA12 gene
Laboratory findings
Symptoms	defect of walking, running, rising or climbing developmental delay dystonia growth retardation, poor growth hypertrichosis learning disability MRI, brain, abnormalities [-] onset, childhood scoliosis white matter changes, abnormalities