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MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)

MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 21 (MC1DN21)
NUBPL
618242
OMIM = Online Mendelian Inheritance of Men
2609
Iron-sulfur protein NUBPL
14q12
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