A homozygote for the c.459+1G>A mutation in the ARSA gene presents with cerebellar ataxia as the only first clinical sign of metachromatic leukodystrophy

✍ Scribed by Ługowska, Agnieszka; Mierzewska, Hanna; Bekiesińska-Figatowska, Monika; Szczepanik, Elżbieta; Goszczańska-Ciuchta, Alicja; Bednarska-Makaruk, Małgorzata

• Book ID: 122134080
• Publisher: Elsevier Science
• Year: 2014
• Tongue: English
• Weight: 322 KB
• Volume: 338
• Category: Article
• ISSN: 0022-510X
• DOI: 10.1016/j.jns.2013.12.030