NT5C2 novel splicing variant expands the phenotypic spectrum of Spastic Paraplegia (SPG45): case report of a new member of thin corpus callosum SPG-Subgroup

BACKGROUND: Hereditary Spastic Paraplegia (HSP) is a genetically heterogeneous group of neurodegenerative diseases. Thin Corpus Callosum (TCC) associated HSP is a distinguished subgroup of complex forms. Purines and pyrimidine, the basic DNA and RNA components, are regulating the cell metabolism, ha...

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Detalles Bibliográficos
Publicado en:BMC Med Genet
Main Authors: Elsaid, Mahmoud F., Ibrahim, Khalid, Chalhoub, Nader, Elsotouhy, Ahmed, El Mudehki, Noora, Abdel Aleem, Alice
Formato: Artigo
Idioma:Inglês
Publicado: BioMed Central 2017
Assuntos:
Case Report
Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5359868/
https://ncbi.nlm.nih.gov/pubmed/28327087
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1186/s12881-017-0395-6
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