A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report

BACKGROUND: Neuronal ceroid lipofuscinoses (NCLs) are the most common autosomal recessive neurodegenerative disorders in children. Clinical manifestations include progressive cognitive decline, motor impairment, ataxia, visual loss, seizures and early death. To date more than 440 NCL-causing mutatio...

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Detalles Bibliográficos
Autores principales: Kozina, Anastasiya Aleksandrovna, Okuneva, Elena Grigorievna, Baryshnikova, Natalia Vladimirovna, Krasnenko, Anna Yurievna, Tsukanov, Kirill Yurievich, Klimchuk, Olesya Igorevna, Kondakova, Olga Borisovna, Larionova, Anna Nikolaevna, Batysheva, Tatyana Timofeevna, Surkova, Ekaterina Ivanovna, Shatalov, Peter Alekseevich, Ilinsky, Valery Vladimirovich
Formato: Online Artículo Texto
Lenguaje:English
Publicado: BioMed Central 2018
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109285/
https://www.ncbi.nlm.nih.gov/pubmed/30144815
http://dx.doi.org/10.1186/s12881-018-0669-7

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109285/
https://www.ncbi.nlm.nih.gov/pubmed/30144815
http://dx.doi.org/10.1186/s12881-018-0669-7

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