远端遗传运动神经病变作为一种与BAG3变异相关的新现象型
Carlos Pablo de Fuenmayor-Fernández de la Hoz1, Vincenzo Lupo2, Laura Bermejo-Guerrero3
1Neuromuscular Disorders Unit, Servicio de Neurología, Department of Neurology, Hospital Universitario 12 de Octubre, Avenida de Córdoba Sin Número, 28041, Madrid, Spain. carlospablo.fuenmayor@salud.madrid.org.
Journal of neurology
|November 1, 2023
概括
一种新的BAG3基因变异导致一种罕见的成人发病的远端遗传运动神经病变. 这种情况呈现出渐进的腿部软弱和女性的不完全透,扩大已知的BAG3相关疾病.
科学领域:
- 遗传学 是一个遗传学.
- 神经学 神经学
- 分子生物学分子生物学
背景情况:
- BAG3基因与各种肌肉疾病有关.
- 了解新的遗传变异对于诊断罕见的神经疾病至关重要.
相关概念视频
Cardiomyopathy III: Hypertrophic Cardiomyopathy
15
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...
15
Translation
142.1K
Lesson: Translation
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
Translation is the process of synthesizing proteins from the genetic information carried by messenger RNA (mRNA). Following transcription, it constitutes the final step in the expression of genes. This process is carried out by ribosomes, complexes of protein and specialized RNA molecules. Ribosomes, transfer RNA (tRNA), and other proteins produce a chain of amino acids—the polypeptide—as the end product of translation.
Translation Produces the Building Blocks of...
142.1K
Genetic Lingo
102.9K
Overview
102.9K
Lysosomal Hydrolases
3.8K
Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
3.8K


