Publications
| Title | Abstract | Year Filter | PMID(sorted descending) Filter |
|---|
| [familial creutzfeldt-jakob disease with the heterozygous point mutation at codon 200 of the prion protein gene (glu-->lys)--report of cjd200 brothers of yamanashi prefecture origin]. | we report two brothers with familial creutzfeldt jakob disease (cjd) having a heterozygous point mutation at codon 200 of the prion protein gene (glu-->lys): cjd200. the brothers were born in kitakoma-gun, yamanashi prefecture. patient 1, a 62-year-old man, developed cjd in 1995 and died nine months later. patient 2, his brother, developed cjd200 at the age of 58 in 1982 and died 13 months later. they both exhibited rapidly progressive dementia with myoclonus and periodic synchronous discharges ... | 1997 | 9163760 |