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Genotype‒phenotype Correlation in Recessive DNAJB4 Myopathy

Michio Inoue, Divya Jayaraman,Rocio Bengoechea,Ankan Bhadra,Casie A. Genetti,Abdulrahman A. Aldeeri, Betül Turan, Rafael Adrian Pacheco-Orozco,Almundher Al-Maawali,Nadia Al Hashmi,Ayşe Gül Zamani,Emine Göktaş,Sevgi Pekcan,Hanife Tuğçe Çağlar,Heather True,Alan H. Beggs,Conrad C. Weihl

ACTA NEUROPATHOLOGICA COMMUNICATIONS（2024）

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关键词
DNAJB4,Protein aggregate myopathy,Chaperonopathy,Respiratory failure,Rigid spine syndrome,Heat shock proteins
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