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

• मुख्य लेखकों: Anastasiya Aleksandrovna Kozina (लेखक), Elena Grigorievna Okuneva (लेखक), Natalia Vladimirovna Baryshnikova (लेखक), Anna Yurievna Krasnenko (लेखक), Kirill Yurievich Tsukanov (लेखक), Olesya Igorevna Klimchuk (लेखक), Olga Borisovna Kondakova (लेखक), Anna Nikolaevna Larionova (लेखक), Tatyana Timofeevna Batysheva (लेखक), Ekaterina Ivanovna Surkova (लेखक), Peter Alekseevich Shatalov (लेखक), Valery Vladimirovich Ilinsky (लेखक)
• स्वरूप: पुस्तक
• प्रकाशित: BMC, 2018-08-01T00:00:00Z.
• विषय: article
• ऑनलाइन पहुंच: Connect to this object online.

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...