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Myotilin Gene Duplication Causing Late-Onset Myotilinopathy

Marco Spinazzi,Marco Savarese,Franck Letournel,Lydia Sagath,Florence Manero,Agnes Guichet,Alexander Hoischen,Corinne Metay,Julien Gouju,Bjarne Udd

EUROPEAN JOURNAL OF NEUROLOGY（2025）

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Key words
distal myopathy,duplication,late-onset myopathy,long-read sequencing,muscle hypertrophy,myofibrillar myopathy,myotilin
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