Absence of the dystrophin gene in Duchenne muscular dystrophy (DMD) results in the degeneration of skeletal and cardiac muscles. Owing to advances in respiratory medicine, cardiomyopathy has become a

NIAID Data Ecosystem20

Clinical characteristics of 13 individuals with heterozygous FHOD3 c.1646+2T>C who showed clinical evidence of HCM at first evaluation.

遗传性心肌病

基因组突变特征

Clinical characteristics of 13 individuals with heterozygous FHOD3 c.1646+2T>C who showed clinical evidence of HCM at first evaluation.

Figshare2023-12-05 更新20

A Novel Arginine to Tryptophan (R144W) Mutation in Troponin T (cTnT) Gene in an Indian Multigenerational Family with Dilated Cardiomyopathy (FDCM)

遗传性心肌病

基因突变关联分析

Cardiomyopathy is a major cause of heart failure and sudden cardiac death; several mutations in sarcomeric protein genes have been associated with this disease. Our aim in the present study is to inve

Figshare2016-01-15 更新40

Compound heterozygous loss-of-function mutations in KIF20A are associated with a novel lethal congenital cardiomyopathy in two siblings

遗传性心肌病

基因功能丧失

Congenital or neonatal cardiomyopathies are commonly associated with a poor prognosis and have multiple etiologies. In two siblings, a male and female, we identified an undescribed type of lethal cong

Figshare2018-02-01 更新20

Mutations in the NOTCH pathway regulator MIB1 cause left ventricular noncompaction cardiomyopathy

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