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A Novel In-Frame Deletion in MYOT Causes an Early Adult Onset Distal Myopathy.

Valeria Guglielmi,Elia Pancheri,Elena Cannone,Vincenzo Nigro,Manuela Malatesta,Andrea Vettori, Alejandro Giorgetti,Annalaura Torella,Stefania Aurino,Barbara Cisterna,Giulia Marchetto,Giuliano Tomelleri,Paola Tonin,Marco Schiavone,Gaetano Vattemi

Clinical genetics（2023）

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Key words
distal myopathy,I-band,myofibrillar myopathy,myotilin,zebrafish model
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