Novel Pathogenic Variants in the SBF2 Gene in Two Siblings With Charcot-Marie-Tooth Disease Type 4B2.

Q3 Medicine

Journal of Clinical Neuromuscular Disease Pub Date : 2026-03-01 Epub Date: 2026-03-03 DOI:10.1097/CND.0000000000000550

Aishani Vengala, Ruthwik Duvuru, Aravindhan Veerapandiyan

引用次数: 0

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两名患有4B2型腓骨肌萎缩症的兄弟姐妹中SBF2基因的新致病变异

本文章由计算机程序翻译，如有差异，请以英文原文为准。

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来源期刊

Journal of Clinical Neuromuscular Disease Medicine-Medicine (all)

CiteScore

1.60

自引率

0.00%

发文量

期刊介绍： Journal of Clinical Neuromuscular Disease provides original articles of interest to physicians who treat patients with neuromuscular diseases, including disorders of the motor neuron, peripheral nerves, neuromuscular junction, muscle, and autonomic nervous system. Each issue highlights the most advanced and successful approaches to diagnosis, functional assessment, surgical intervention, pharmacologic treatment, rehabilitation, and more.