Scholarlink

<p>We present the case of a man who complained of clinical features of a mitochondrial ataxia. He ultimately harbored a homozygous variant in the POLG gene. The patient also showed evidence of palatal tremor, a possible clue for POLG-related condition.</p>

错误：搜索内容不能为空，请输入英文关键词
错误：关键词超出字数限制，请精简
高级检索

Palatal tremor as the clue sign of POLG-related syndrome

  • 期刊论文

  • 发表日期：

    2025年4月21日

查看全文
  • Sara Satolli,
  • Andrea Mignarri,
  • Filippo Maria Santorelli

摘要

We present the case of a man who complained of clinical features of a mitochondrial ataxia. He ultimately harbored a homozygous variant in the POLG gene. The patient also showed evidence of palatal tremor, a possible clue for POLG-related condition.