A case of DYNC1H1 gene mutation with symptoms of Charcot-Marie-Tooth disease and SMA-LED

佐藤睦美 (Mutsumi Sato)

[P-303] A case of DYNC1H1 gene mutation with symptoms of Charcot-Marie-Tooth disease and SMA-LED

佐藤睦美 (Mutsumi Sato)¹, 武下草生子², 尾高真生¹, 山本亜矢子³, 山下純正³, 後藤知英³, 吉村明子⁴, 橋口昭大⁴, 高嶋博⁴ (1.小田原市立病院小児科, 2.横浜市立大学附属市民総合医療センター小児総合医療センター, 3.神奈川県立こども医療センター神経内科, 4.鹿児島大学大学院医歯学総合研究科神経病学講座脳神経内科)

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Presentation information

[P46] Peripheral nerve

[P-303] A case of DYNC1H1 gene mutation with symptoms of Charcot-Marie-Tooth disease and SMA-LED

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