BRAIN and NERVE－神経研究の進歩76巻4号

2024年04月発行

特集 神経病理最前線

筋病理の現状と今後—今後の筋病理診断の立ち位置

著者： 斎藤良彦¹ 西野一三¹

所属機関： ¹国立精神・神経医療研究センター神経研究所疾病研究第一部

ページ範囲：P.375 - P.386

文献概要

筋疾患名の多くは多少なりとも筋病理所見に基づく。したがって，筋疾患の診断には筋病理診断が重要である。近年では広範な遺伝学的解析や筋炎自己抗体検索が臨床応用され，筋生検が限定的に実施される傾向にある。しかし，1つの遺伝子が複数の表現型を呈する場合や，病的意義不明のバリアントが検出された場合，筋ジストロフィーと誤診される可能性のある自己免疫性筋炎の場合には，筋病理診断を積極的に実施すべきである。

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