Biallelic mutations in mitochondrial tryptophanyl-tRNA synthetase cause Levodopa-responsive infantile-onset Parkinsonism. [electronic resource]
Producer: 20190911Description: 712-718 p. digitalISSN:- 1399-0004
- Adolescent
- Age of Onset
- Alleles
- Biopsy
- DNA Mutational Analysis
- Fibroblasts -- metabolism
- Genetic Association Studies
- Genotype
- Humans
- Levodopa -- therapeutic use
- Magnetic Resonance Imaging
- Male
- Mutation
- Parkinsonian Disorders -- diagnosis
- Phenotype
- Polymorphism, Single Nucleotide
- Precision Medicine
- Tryptophan-tRNA Ligase -- genetics
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Publication Type: Case Reports; Journal Article; Research Support, N.I.H., Intramural; Research Support, Non-U.S. Gov't
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