@article{1151,
  author = {Lawrence Korngut and Victoria Siu and Shannon Venance and Simon Levin and Peter Ray and Richard Lemmers and Julia Keith and Craig Campbell},
  title = {Phenotype of combined Duchenne and facioscapulohumeral muscular dystrophy.},
  abstract = {<p>This case report describes a young boy with concomitant genetically-confirmed Duchenne muscular dystrophy and facioscapulohumeral muscular dystrophy with a novel dystrophin mutation in exon 6 and a D4Z4 fragment of 31 kb. This child presented with a more severe phenotype than expected for either individual disease process and underscores the role for thorough diagnostic investigation in identifying atypical clinical presentations.</p>},
  year = {2008},
  journal = {Neuromuscular disorders : NMD},
  volume = {18},
  pages = {579-82},
  month = {07/2008},
  issn = {0960-8966},
  doi = {10.1016/j.nmd.2008.03.011},
  language = {eng},
}