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

• Authors: O Sanal, L Yel, T Kucukali, E Gilbert-Barnes, M Tardieu, I Texcan, F Ersoy, A Metin, G de Saint Basile
• Journal: Journal of neurology (J Neurol) Vol. 247 Issue 7 Pg. 570-2 (Jul 2000) ISSN: 0340-5354 [Print] Germany
• PMID: 10993506 (Publication Type: Case Reports, Letter)

Chemical References

• Codon, Nonsense
• Myosins

Topics

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