[A case of spastic paraplegia with SPG4 and SPG3 associated mutations].

Rudenskaya, G E; Kuchina, A S; Kadnikova, V A; Ryzhkova, O P

[A case of spastic paraplegia with SPG4 and SPG3 associated mutations]. / Sluchai spasticheskoi paraplegii s mutatsiyami v genakh dvukh form: SPG4 i SPG3.

Rudenskaya, G E; Kuchina, A S; Kadnikova, V A; Ryzhkova, O P.

Affiliation

Rudenskaya GE; Bochkov Research Centre for Medical Genetics, Moscow, Russia.
Kuchina AS; Bochkov Research Centre for Medical Genetics, Moscow, Russia.
Kadnikova VA; Bochkov Research Centre for Medical Genetics, Moscow, Russia.
Ryzhkova OP; Bochkov Research Centre for Medical Genetics, Moscow, Russia.

Zh Nevrol Psikhiatr Im S S Korsakova ; 123(5): 171-176, 2023.

Article in Ru | MEDLINE | ID: mdl-37315258

Subject(s)

Paraplegia; Spastic Paraplegia, Hereditary; Adult; Aged; Female; Humans; Middle Aged; High-Throughput Nucleotide Sequencing; Mothers; Mutation; Paraplegia/diagnosis; Paraplegia/genetics; Spastic Paraplegia, Hereditary/diagnosis; Spastic Paraplegia, Hereditary/genetics; Spastin/genetics; Male

Key words

SPAST and ATL1 mutations; SPG3; SPG4; incomplete penetrance; independent coincidence; spastic paraplegia

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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Paraplegia / Spastic Paraplegia, Hereditary Type of study: Diagnostic_studies / Prognostic_studies / Risk_factors_studies Limits: Adult / Aged / Female / Humans / Male / Middle aged Language: Ru Journal: Zh Nevrol Psikhiatr Im S S Korsakova Year: 2023 Document type: Article

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