A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).

@article{Jdrzejowska2008APW,
  title={A patient with both Charcot-Marie-Tooth disease (CMT 1A) and mild spinal muscular atrophy (SMA 3).},
  author={Maria Jędrzejowska and Barbara Ryniewicz and Dagmara Kabzińska and Hanna Drac and Irena Hausmanowa-Petrusewicz and Andrzej Kochanski},
  journal={Neuromuscular disorders : NMD},
  year={2008},
  volume={18 4},
  pages={339-41}
}
In the present study, we report a single Polish SMA family in which the 17p11.2-p12 duplication causative for the Charcot-Marie-Tooth type 1A disease (CMT1A) was found in addition to a deletion of exons 7 and 8 of the SMN1 gene. A patient harboring both SMA and CMT1A mutations manifested with SMA3 phenotype and foot deformity. Her electrophysiological… CONTINUE READING