Homozygosity for a missense mutation in the 67 kDa isoform of glutamate decarboxylase in a family with autosomal recessive spastic cerebral palsy: parallels with Stiff-Person Syndrome and other movement disorders

BACKGROUND: Cerebral palsy (CP) is an heterogeneous group of neurological disorders of movement and/or posture, with an estimated incidence of 1 in 1000 live births. Non-progressive forms of symmetrical, spastic CP have been identified, which show a Mendelian autosomal recessive pattern of inheritan...

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Detalles Bibliográficos
Autores principales: Lynex, Clare N, Carr, Ian M, Leek, Jack P, Achuthan, Rajgopal, Mitchell, Simon, Maher, Eamonn R, Woods, C Geoffrey, Bonthon, David T, Markham, Alex F
Formato: Texto
Lenguaje:English
Publicado: BioMed Central 2004
Materias:
Research Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC544830/
https://www.ncbi.nlm.nih.gov/pubmed/15571623
http://dx.doi.org/10.1186/1471-2377-4-20

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