Article
Molecular confirmation of founder mutation c.-167A>G in Tunisian patients with PMLD disease.
Gene - 25 Jan 2013
Kammoun Jellouli Nadege, Salem Ikhlass Hadj, Ellouz Emna, Louhichi Nacim, tlili Abdelaziz, Kammoun Fatma, Triki Chanez, Fakhfakh Faiza
Abstract excerpt
Pelizaeus Merzbacher disease and Pelizaeus Merzbacher like disease (PMLD) are hypomyelinating leucodystrophies of the central nervous system (CNS) with a very similar phenotype. PMD is an X-linked recessive condition caused by mutations, deletion duplication or triplication of the proteolipid protein 1 gene (PLP1). However, PMLD is a recessive autosomal hypomyelinating leukodystrophy caused by mutations of the...
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