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Published in 2018 at "Human Genome Variation"
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…
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Keywords:
lafora disease;
homozygous nhlrc1;
variant siblings;
nhlrc1 variant ... See more keywords