Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population | Zendy

Yoshitomo Miyamoto | Zendy; Hozuka Akita | Zendy; N. Shiga | Zendy; E Takai | Zendy; Chizuo Iwai | Zendy; K. Mizutani | Zendy; H Kawai | Zendy; Akira Takarada | Zendy; M Yokoyama | Zendy

Open Access

Frequency and clinical characteristics of dilated cardiomyopathy caused by desmin gene mutation in a Japanese population

Author(s) -

Yoshitomo Miyamoto,

Hozuka Akita,

N. Shiga,

E Takai,

Chizuo Iwai,

K. Mizutani,

H Kawai,

Akira Takarada,

M Yokoyama

Publication year - 2001

Publication title -

european heart journal

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 4.336

H-Index - 293

eISSN - 1522-9645

pISSN - 0195-668X

DOI - 10.1053/euhj.2001.2836

Subject(s) - dilated cardiomyopathy , missense mutation , desmin , medicine , cardiomyopathy , mutation , gene mutation , cardiology , proband , genetics , heart failure , gene , biology , vimentin , immunohistochemistry

Dilated cardiomyopathy is partly caused by a mutation of some cytoskeletal or nuclear envelope proteins. It has been confirmed recently that a missense mutation of the gene encoding desmin, a cytoskeletal protein, can cause dilated cardiomyopathy. This study was aimed at elucidating the frequency and clinical characteristics of dilated cardiomyopathy caused by desmin mutation.

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