MITOCHONDRIAL tRNA(Phe) DEFICIENCY (MT-TF) | |
MTTF | |
???
OMIM = Online Mendelian Inheritance of Men | |
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Detail information to gene locus by the National Center for Biotechnology Information NCBI: |
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very rare mitochondrial inheritance | |
Laboratory findings | L-Lactic acid inc (blood) |
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 |