A recurrent homozygous NHLRC1 variant in siblings with Lafora disease
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DOI: 10.1038/s41439-018-0015-9
Abstract: We report a case of two siblings with progressive myoclonus epilepsy whose parents were not consanguineous. Their clinical symptoms were typical of Lafora disease (LD), but skin biopsies revealed no Lafora bodies. Whole-exome sequencing identified… read more here.
Keywords: lafora disease; homozygous nhlrc1; variant siblings; nhlrc1 variant ... See more keywords