[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene].

Rudenskaya, G E; Shestopalova, E A; Kadnikova, V A; Shchagina, O A

[Atypical spastic paraplegia type 4 due to p.Arg499His mutation in SPAST gene]. / Atipichnaya spasticheskaya paraplegiya 4-go tipa s mutatsiei p.Arg499His gena SPAST.

Rudenskaya, G E; Shestopalova, E A; Kadnikova, V A; Shchagina, O A.

Rudenskaya GE; Research Centre for Medical Genetics, Moscow, Russia.
Shestopalova EA; Research Centre for Medical Genetics, Moscow, Russia.
Kadnikova VA; Research Centre for Medical Genetics, Moscow, Russia.
Shchagina OA; Research Centre for Medical Genetics, Moscow, Russia.

Zh Nevrol Psikhiatr Im S S Korsakova ; 122(3): 117-120, 2022.

Article en Ru | MEDLINE | ID: mdl-35394730

Asunto(s)

Paraplejía Espástica Hereditaria; Espastina; Preescolar; Humanos; Mutación; Fenotipo; Paraplejía Espástica Hereditaria/diagnóstico; Paraplejía Espástica Hereditaria/genética; Espastina/genética

Palabras clave

SPAST gene; atypical signs; genotype-phenotype relation; p.Arg499His mutation; spastic paraplegia SPG4

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Texto completo: 1 Banco de datos: MEDLINE Asunto principal: Paraplejía Espástica Hereditaria / Espastina Tipo de estudio: Diagnostic_studies Límite: Child, preschool / Humans Idioma: Ru Año: 2022 Tipo del documento: Article

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