Article
The spectrum of PLP1 gene mutations in patients with the classical form of the Pelizaeus-Merzbacher disease.
Medycyna wieku rozwojowego - 1 Jan 2000
Hoffman-Zacharska Dorota, Mierzewska Hanna, Szczepanik Elżbieta, Poznański Jarosław, Mazurczak Tomasz, Jakubiuk-Tomaszuk Anna, Mądry Jacek, Kierdaszuk Anatol, Bal Jerzy
Abstract excerpt
UNLABELLED: The Pelizaeus-Merzbacher disease (PMD) is a rare X-linked recessive hypomyelination disorder caused by mutations of the proteolipid protein1 gene (PLP1). There is a spectrum of PLP1-related disorders from very severe connatal PMD, through classical PMD to mild spastic paraplegia type 2 (SPG2), with some correlation between the type of mutation and the phenotype. In general, missense mutations give...
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