@article{oai:nagasaki-u.repo.nii.ac.jp:00020050,
 author = {Hayashi, Ikuo and Ashizawa, Naoto and Oku, Yasuhiko and Ozeki, Shinichiro and Ohtsuru, Akira and Yano, Katsusuke},
 issue = {1-3},
 journal = {Acta medica Nagasakiensia},
 month = {Oct},
 note = {The purpose of this study was to identify the presence of either mutation or polymorphism in the cardiac β myosin heavy chain (MHC) gene of the Japanese who had familial hypertrophic cardiomyopathy (FHCM). We analyzed exons 3-25 of the cardiac MHC gene in seven unrelated Japanese families (17 affected and 10 unaffected individual with HCM), using the polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis. Our study showed that affected members of one family (proband; I.I.) had an identical pattern of aberrantly migrating band of exon 21.Similarly we found polymorphism and probable point mutation located on exon 3 of one patient with sporadic HCM (Pt;T.M.). Both proband;I. I. and Pt; T.M., developed lethal congestive heart failure with left ventricular (LV) dilatation as confirmed by autopsy. This suggest that PCR-SSCP analysis is an useful tool for clinical screening of HCM., Acta medica Nagasakiensia. 1994, 39(1-3), p.168-171},
 pages = {168--171},
 title = {Genetic Analysis of Cardiacβ  Myosin Heavy Chain(MHC)Gene in Seven Families with Hypertrophic Cardiomyopathy in Japan},
 volume = {39},
 year = {1994}
}