Megalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (C.448DELC, P.LEU150 SER FSX11) on exon 6 of MLC1 gene
Küçük Resim Yok
Tarih
2015
Dergi Başlığı
Dergi ISSN
Cilt Başlığı
Yayıncı
Editions Medecine et Hygiene
Erişim Hakkı
info:eu-repo/semantics/closedAccess
Özet
Megalencephalic leukoencephalopathy with subcortical cysts with homozygous mutation (c.448delc, p. Ieul 50 ser fsx11) on exon 6 of MLC1 gene: MLC or Van der Knaap disease is a rare entity, a rare and genetically heterogeneous cerebral white matter disease. It is characterized by the presence of macrocephaly, epilepsy and a slowly progressive spastic cerebellar syndrome. It is an autosomal recessive disease caused from mutations of MLC1 gene. In the current case report, a case with MLC who had a homozygous mutation (c.448delC, p.Leu150 ser fsX11) on exon 6 of MLC1 gene is presented.
Açıklama
PubMed ID: 26349194
Anahtar Kelimeler
Macrocephaly; MLC1 gene; Neurodegenerative disorder; Subcortical cysts; Van der Knaap disease
Kaynak
Genetic Counseling
WoS Q Değeri
Scopus Q Değeri
N/A
Cilt
26
Sayı
2
