MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)

Question 1

What is  MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)?

Accepted Answer

very rare

autosomal recessive

mutation in the NUBPL gene

Question 2

What is the link to OMIM ?

Accepted Answer

OMIN 618242

Question 3

Which enzymes are involved?

Accepted Answer

Iron-sulfur protein NUBPL

Disease	MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)
Synonym	NUBPL
OMIM	618242 OMIM = Online Mendelian Inheritance of Men
Orphanet	2609
Protein (UniProt)	Iron-sulfur protein NUBPL
Gene locus	14q12
ICD
Summary	very rare autosomal recessive mutation in the NUBPL gene
Laboratory findings
Symptoms	ataxia cerebellar atrophy or hypoplasia cognitive impairment defect of walking, running, rising or climbing developmental delay developmental regression dysarthria growth retardation, poor growth hyperreflexia hypertonia, spasticity hypotonia leukodystrophy leukoencephalopathy MRI, brain, abnormalities [-] myopathy nystagmus onset, childhood speech development, delayed, abnormal strabismus