A novel variant of the human mitochondrial DnaJ protein, Tid1, associates with a human disease exhibiting developmental delay and polyneuropathy
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DOI: 10.1038/s41431-019-0358-9
Abstract: Here, we describe a single patient from a consanguineous family, who suffers from developmental delay, intellectual disability, hypermetropia, moderate alternating esotropia, unsteady gait, and peripheral polyneuropathy. Brain MRI revealed basal ganglia disease. Exome analysis disclosed… read more here.
Keywords: protein; developmental delay; tid1; polyneuropathy ... See more keywords