Reply: The p.Ser107Leu in BICD2 is a mutation 'hot spot' causing distal spinal muscular atrophy.
2015
Sir,
Thank you for the opportunity to reply to the correspondence concerning our recent publication in Brain , ‘Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2’ (Rossor et al. , 2015). We read with great interest the letter from Bansagi et al. and thank the authors for providing further evidence that p.Ser107Leu in BICD2 is a mutation ‘hot spot’.
Bansagi et al. (2015) describe two unrelated families with a typical Spinal Muscular Atrophy Lower Extremity Dominant (SMALED) phenotype. In both families, affected individuals presented at birth with either toe deformities …
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