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[家族性心肌病:对两个进行心肌和骨骼肌活检的家族的研究]

[Familial cardiomyopathy: a study of two families with myocardial and skeletal muscle biopsies].

作者信息

Sacrez A, Porte A, Batzenschlager A, De Barsy T, Wolff F, Grison D, Stoeckel L, Ferrière P

出版信息

Arch Mal Coeur Vaiss. 1979 Jul;72(7):786-92.

PMID:117777
Abstract

Cardiomyopathy was diagnosed in several members of two families. This familial cardiomyopathy showed symmetrical or asymmetrical hypertrophy of the ventricular walls with or without obstruction to the left ventricular outflow tract. Certain forms were asymptomatic and were revealed by the family history and echocardiography. Myocardial and intercostal muscle biopsy was performed for a biochemical and ultrastructural analysis. Different myocardial features were observed in the two families: a large increase in the glycogen deposits in the one, without clinical signs of a glycogen storage disease, and intracellular deposits of a filamentous protein substance in the other.

摘要

在两个家族的多名成员中诊断出心肌病。这种家族性心肌病表现为心室壁对称性或不对称性肥厚,伴或不伴有左心室流出道梗阻。某些类型无症状,通过家族史和超声心动图发现。进行了心肌和肋间肌活检以进行生化和超微结构分析。在两个家族中观察到不同的心肌特征:一个家族中糖原沉积大量增加,但无糖原贮积病的临床症状,另一个家族中则有丝状蛋白质物质的细胞内沉积。

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