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

Abstract 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...

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Main Authors: Anastasiya Aleksandrovna Kozina (Author), Elena Grigorievna Okuneva (Author), Natalia Vladimirovna Baryshnikova (Author), Anna Yurievna Krasnenko (Author), Kirill Yurievich Tsukanov (Author), Olesya Igorevna Klimchuk (Author), Olga Borisovna Kondakova (Author), Anna Nikolaevna Larionova (Author), Tatyana Timofeevna Batysheva (Author), Ekaterina Ivanovna Surkova (Author), Peter Alekseevich Shatalov (Author), Valery Vladimirovich Ilinsky (Author)
Format: Book
Published: BMC, 2018-08-01T00:00:00Z.
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3rd Floor Main Library

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