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Updated: Jul 19, 2025

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结核病的一个变体与运动神经不全症和体低质化相关:一个病例报告

Maria Caputo1, Ilaria Martinelli2,3, Nicola Fini2

  • 1Department of Biomedical, Metabolic and Neural Sciences, University of Modena and Reggio Emilia, 41125 Modena, Italy.

International journal of molecular sciences
|August 12, 2023
PubMed
概括

突变的突蛋白特异性伴侣D (TBCD) 基因导致神经发育障碍. 一种罕见的TBCD变体导致一个年轻女子的远端运动神经病变和轻度智力障碍.

关键词:
体质体的低成长 体质体的低成长远端发动神经病变 - 远端发动神经病变管氨酸特异性伴侣 D D输卵管内病变 (tubulinopathy) 是一种输卵管病变.

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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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