An allelic variant of Griscelli disease: presentation with severe hypotonia, mental-motor retardation, and hypopigmentation consistent with Elejalde syndrome (neuroectodermal melanolysosomal disorder)

J Neurol. 2000 Jul;247(7):570-2. doi: 10.1007/s004150070162.
No abstract available

Publication types

  • Case Reports
  • Letter

MeSH terms

  • Child
  • Codon, Nonsense / genetics*
  • DNA Mutational Analysis
  • Female
  • Humans
  • Hypopigmentation / genetics*
  • Hypopigmentation / physiopathology
  • Intellectual Disability / genetics*
  • Intellectual Disability / physiopathology
  • Melanosomes / pathology*
  • Motor Skills Disorders / genetics*
  • Motor Skills Disorders / physiopathology
  • Muscle Hypotonia / genetics*
  • Muscle Hypotonia / physiopathology
  • Myosins / genetics
  • Syndrome

Substances

  • Codon, Nonsense
  • Myosins