MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (MC1DN15)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (MC1DN15)?

Accepted Answer

very rare

autosomal recessive

mutation in the C6ORF66 gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618237

Question 3

Which enzymes are involved?

Accepted Answer

NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 15 (MC1DN15)
Synonym	C6ORF66
OMIM	618237 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	NADH dehydrogenase [ubiquinone] 1 alpha subcomplex assembly factor 4
Gene locus	6q16.1
ICD
Summary	very rare autosomal recessive mutation in the C6ORF66 gene
Laboratory findings	L-Lactic acid inc (cerebrospinal fluid) L-Lactic acid inc (serum)
Symptoms	basal ganglia, changes, lesions, calcifications (MRI, CT) cardiomyopathy cardiomyopathy, hypertrophic contractures, joints decreased spontaneous movements dystonia early death encephalopathy failure to thrive hearing defect, deafness hyperreflexia hypotonia intrauterine growth retardation irritability myopathy nystagmus onset, neonatal optic atrophy seizures skoliosis, kyphoskoliosis spastic diplegia/quadriplegia/tetraplegia