Complete loss of the DNAJB6 G/F domain and novel missense mutations cause distal-onset DNAJB6 myopathy

Alessandra Ruggieri, Francesco Brancati, Simona Zanotti, Lorenzo Maggi, Maria Barbara Pasanisi, Simona Saredi, Chiara Terracciano, Carlo Antozzi, Maria Rosaria D Apice, Federica Sangiuolo, Giuseppe Novelli, Christian R. Marshall, Stephen W. Scherer, Lucia Morandi, Luca Federici, Roberto Massa, Marina Mora, Berge A. Minassian

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Medicine & Life Sciences