A novel missense mutation in the myosin binding protein-C gene is responsible for hypertrophic cardiomyopathy with left ventricular dysfunction and dilation in elderly patients
Tetsuo Konno, MD*,
Masami Shimizu, MD*,*,
Hidekazu Ino, MD*,
Toru Matsuyama, MD*,
Masato Yamaguchi, MD*,
Hidenobu Terai, MD*,
Kenshi Hayashi, MD*,
Tomohito Mabuchi, MD*,
Masaru Kiyama, MD*,
Kenji Sakata, MD*,
Tatsumi Hayashi, MD*,
Masaru Inoue, MD*,
Tomoya Kaneda, MD* and
Hiroshi Mabuchi, MD*
* Molecular Genetics of Cardiovascular Disorders, Division of Cardiovascular Medicine, Graduate School of Medical Science, Kanazawa University, Kanazawa, Japan
View larger version (38K):
[in a new window]
|
Figure 1 A single base pair sequence variant on one allele (guanine to adenosine, second position) encodes a mutant myosin binding protein-C that contains glutamine at residue 820.
|
|
View larger version (30K):
[in a new window]
|
Figure 2 Pedigrees of HCM-011, HCM-023, HCM-084, HCM-089, HCM-168, HCM-171, and DCM-006. The genotypic and phenotypic status of subjects is indicated in the key. DCM = dilated cardiomyopathy; HCM = hypertrophic cardiomyopathy.
|
|
|
