Gerstmann–Straussler–Scheinker disease with PRNP P102L heterozygous mutation presenting as progressive myoclonus epilepsy
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DOI: 10.1111/ene.13447
Abstract: An Italian woman in her mid-20s developed unsteadiness, slow movements and difficulty in speaking. She had a normal birth and developmental milestones. At the age of 29 years, she began to complain of spontaneous and… read more here.
Keywords: gerstmann straussler; prnp p102l; scheinker disease; straussler scheinker ... See more keywords