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Updated: Sep 11, 2025

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model
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KLHL9相关的远端肌肉病变:第二个家族表明了广泛的表型变异性

Rumiko Izumi1, Isao Fukasaka2, Tsuyoshi Matsumura3

  • 1Department of Neurology, Tohoku University School of Medicine, Miyagi, Japan; Department of Medical Genetics, Tohoku University School of Medicine, Miyagi, Japan.

Neuromuscular disorders : NMD
|August 16, 2025
PubMed
概括

这项研究确定了KLHL9基因变异在患有远端肌肉病的家庭,肌肉消耗状况影响腿部肌肉. 这些发现扩大了对KLHL9相关的远端肌肉病现象型的理解.

关键词:
远端肌肉病变是一种病变.在 KLHL9-Cullin 3 综合体.KLHL9相关的远端肌肉病变凯尔奇类同类9的同类9乌比基因结合酶的使用.

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Utility of Dissociated Intrinsic Hand Muscle Atrophy in the Diagnosis of Amyotrophic Lateral Sclerosis

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Cardiomyopathy III: Hypertrophic Cardiomyopathy01:29

Cardiomyopathy III: Hypertrophic Cardiomyopathy

Hypertrophic cardiomyopathy, or HCM, is an autosomal dominant genetic disorder characterized by asymmetric left ventricular hypertrophy without ventricular dilation. It is more common in men and is typically diagnosed in young, athletic adults.EtiologyHCM is primarily genetic and is caused by mutations in genes encoding sarcomeric proteins. Researchers have identified over 1400 mutations across at least 11 different genes. Among these, the most frequently occurring mutations are found in the...
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