A new double-trouble phenotype: fascioscapulohumeral muscular dystrophy ameliorates hereditary spastic paraparesis due to spastin mutation

J Neurol. 2015 Feb;262(2):476-8. doi: 10.1007/s00415-014-7606-2. Epub 2014 Dec 16.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Adenosine Triphosphatases / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Male
  • Microfilament Proteins
  • Middle Aged
  • Muscular Dystrophy, Facioscapulohumeral / complications*
  • Muscular Dystrophy, Facioscapulohumeral / genetics*
  • Nuclear Proteins / genetics*
  • Pedigree
  • Phenotype
  • RNA-Binding Proteins
  • Spastic Paraplegia, Hereditary / complications*
  • Spastic Paraplegia, Hereditary / genetics*
  • Spastin
  • Young Adult

Substances

  • FRG1 protein, human
  • Microfilament Proteins
  • Nuclear Proteins
  • RNA-Binding Proteins
  • Adenosine Triphosphatases
  • Spastin
  • SPAST protein, human