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

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...

Full description

Bibliographic Details
Main Authors: Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
Format: Article
Language:English
Published: BMC 2018-08-01
Series:BMC Medical Genetics
Subjects:
Neuronal ceroid lipofuscinosis
NCL
MFSD8
NCL7
Variant late-infantile NCL
Rett-like phenotype
Online Access:http://link.springer.com/article/10.1186/s12881-018-0669-7

Similar Items

Similar Items