相关实验视频

Updated: Jun 18, 2026

Tissue Triage and Freezing for Models of Skeletal Muscle Disease
05:58

Tissue Triage and Freezing for Models of Skeletal Muscle Disease

Published on: July 15, 2014

40.3K

儿科片类病变中的神经肌肉和心血管表型:一个多站点的回顾性研究

Alayne P Meyer1,2, Cara L Barnett3, Katherine Myers4,5

  • 1Division of Genetic and Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio, USA alayne.meyer@nationwidechildrens.org Cara.Barnett@cchmc.org.

Journal of medical genetics
|December 5, 2023
PubMed
概括

在TTN基因的致病变体导致儿童的各种肌肉和心脏疾病. 这项研究突出了广泛的症状和诊断这些titinopathies的挑战.

关键词:
心肌病心脏病变的疾病.基因型 基因型 基因型神经肌肉疾病 神经肌肉疾病儿科 儿科 儿科现象型 现象型 是一种表现型.

更多相关视频

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy09:18

Measurements of Motor Function and Other Clinical Outcome Parameters in Ambulant Children with Duchenne Muscular Dystrophy

Published on: January 12, 2019

10.4K
Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model03:45

Investigating the Pathogenesis of MYH7 Mutation Gly823Glu in Familial Hypertrophic Cardiomyopathy using a Mouse Model

Published on: August 8, 2022

3.2K

相关概念视频

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...
Alterations in Muscle Tone ll01:12

Alterations in Muscle Tone ll

Alterations in muscle tone are common manifestations of neurological disorders and reflect dysfunction within different nervous system regions. Spasticity, paratonia, and dystonia represent distinct forms of hypertonia, each with unique mechanisms, clinical features, and diagnostic importance.CharacteristicsSpasticity happens from upper motor neuron lesions and is characterized by velocity-dependent resistance to passive movement. Clinical features include:Exaggerated deep tendon reflexesClonus...