Analysis of GLRA1 in hereditary and sporadic hyperekplexia: a novel mutation in a family cosegregating for hyperekplexia and spastic paraparesis.

Elmslie, F V; Hutchings, S M; Spencer, V; Curtis, A; Covanis, T; Gardiner, R M; Rees, M

Elmslie, F V; Hutchings, S M; Spencer, V; Curtis, A; Covanis, T; Gardiner, R M; Rees, M.

Affiliation

Elmslie FV; Department of Paediatrics, University College London, Medical School, Rayne Institute, London, UK.

J Med Genet ; 33(5): 435-6, 1996 May.

Article in En | MEDLINE | ID: mdl-8733061

Subject(s)

Movement Disorders/genetics; Receptors, Glycine/genetics; Reflex, Startle/genetics; Base Sequence; DNA Primers; Female; Humans; Male; Molecular Sequence Data; Muscle Hypertonia/genetics; Mutation; Pedigree

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Full text: 1 Database: MEDLINE Main subject: Reflex, Startle / Receptors, Glycine / Movement Disorders Limits: Female / Humans / Male Language: En Year: 1996 Type: Article

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Full text: 1 Database: MEDLINE Main subject: Reflex, Startle / Receptors, Glycine / Movement Disorders Limits: Female / Humans / Male Language: En Year: 1996 Type: Article