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Summary
MITOCHONDRIAL tRNA(Phe) DEFICIENCY (MT-TF)
MTTF
???
OMIM = Online Medalian Inheritance of Men
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Detail information to gene locus by the National Center for Biotechnology Information NCBI:
very rare
mitochondrial inheritance
symptoms
dementia
epilepsy
headache (severe, recurrent or occipital, migraine)
lactic acidosis
muscle weakness
nystagmus
onset, adolescent
onset, childhood
onset, infancy
pain, muscle
psychosis
seizures
spastic diplegia/quadriplegia/tetraplegia
laboratory finding
L-Lactic acid mmol/lblood
Literature
Diodato D,et al.A novel AIFM1 mutation expands the phenotype to an infantile motor neuron diseaseEur J Hum Genet243463-4662016
Hu B,et al.A novel missense mutation in AIFM1 results in axonal polyneuropathy and misassembly of OXPHOS complexesEur J Neurol002017
Heimer G,et al.Mutations in AIFM1 cause an X-linked childhood cerebellar ataxia partially responsive to riboflavinEur J Paediatr Neurol002017
Morton SU,et al.AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infantCold Spring Harb Mol Case Stud32a0015602017