Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
Distinct phenotypic features and gender-specific disease manifestations in a Spanish family with desmin L370P mutation
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DOI：
10.1016/j.nmd.2006.05.011
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发表时间：
2006-08-01
影响因子：
2.8
通讯作者：
Navarro, Carmen
中科院分区：
文献类型：
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作者：
Arias, Manuel;Pardo, Julio;Navarro, Carmen
desmin病是由DES基因突变引起的肌原纤维肌病的一种亚型，可导致肌原纤维断裂和含有desmin和其他蛋白质成分的细胞内包涵体。腱鞘病主要累及骨骼肌和心肌，可单独累及或同时累及。常染色体显性遗传和常染色体隐性遗传均有报道。在这里，我们描述了迄今为止鉴定的第二个具有L370P基因突变的家族。该家族的疾病表现出具有特定表型的常染色体显性遗传，其中配偶患有心脏源性猝死，而女性表现出远端发病和缓慢进展的良性肌病。由于先前鉴定出的与该突变相关的唯一家族仅限于一名被研究的患者，因此目前的亲属代表了与L370P突变相关的表型的最大临床研究。(C) 2006 Elsevier B.V.版权所有
Desminopathies represent a subtype of myofibrillar myopathy caused by mutations in the DES gene, which cause myofibril disruption and intracellular inclusions containing desmin and other protein components. Desminopathy mainly involves skeletal and cardiac muscle, separately or together. Both autosomal dominant and autosomal recessive inheritance have been reported. Here, we describe the second family identified to date with an L370P desmin mutation. The disease in this family shows autosomal dominant inheritance with a particular phenotype, where mates suffer from sudden death of cardiac origin while females exhibit a more benign myopathy of distal onset and slower progression. Because the only family previously identified with this mutation was limited to one studied patient, the present kindred represents the largest clinical investigation of the phenotype associated with the L370P mutation. (C) 2006 Elsevier B.V. All rights reserved.