Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2 von Rossor, Alexander M, Oates, Emily C, Salter, Hannah K, Liu, Yang, Murphy, Sinead M, Schule, Rebecca, Gonzalez, Michael A, Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A, Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N, Blake, Julian, Sowden, Janet E, Acsadi, Gyuda, Rodriguez, Michael L, Menezes, Manoj P, Clarke, Nigel F, Auer Grumbach, Michaela, Bullock, Simon L, Muntoni, Francesco, Reilly, Mary M, North, Kathryn N

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Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy von Rossor, Alexander M, Oates, Emily C, Salter, Hannah K, Liu, Yang, Murphy, Sinead M, Schule, Rebecca, Gonzales, Michael A, Scoto, Mariacristina, Phadke, Rahul, Sewry, Caroline A, Houlden, Henry, Jordanova, Albena, Tournev, Iyailo, Chamova, Teodora, Litvinenko, Ivan, Zuchner, Stephan, Herrmann, David N, Blake, Julian, Sowden, Janet E, Acsadi, Gyuda, Rodriguez, Michael L, Menezes, Manoj P, Clarke, Nigel F, Auer Grumbach, Michaela, Bullock, Simon L, Muntoni, Francesco, Reilly, Mary M, North, Kathryn N

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