Nemaline Myopathy: A Case Report

被引：6

作者：

Mubaraki, Adnan A. ^{[1
]}

机构：

[1] Taif Univ, Coll Med, Dept Med, At Taif, Saudi Arabia

来源：

CASE REPORTS IN NEUROLOGY | 2021年 / 13卷 / 02期

关键词：

Congenital myopathy; Nemaline rods; Nemaline; Nebulin; (NEB) gene; Weakness;

D O I：

10.1159/000517898

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

Generalized weakness in the pediatric and adolescent population is caused by many disorders that affect the neuromuscular axis. As next-generation sequencing (NGS) is becoming of high yield in replacing more invasive procedures, that is, muscle and nerve biopsy, more previously undiagnosed diseases of the muscles are now labeled with specific pathogenicity. A 16-year-old-girl diagnosed with nemaline myopathy but previously was misdiagnosed with congenital myasthenia and put-on unnecessary medications. Clinicians should be aware of congenital diseases that affect the muscles and know the importance of the NGS in reaching the correct diagnosis more so when there is a history of consanguinity.

引用

页码：499 / 503

页数：5

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