Article
Pelizaeus-Merzbacher-like disease caused by AIMP1/p43 homozygous mutation.
American journal of human genetics - 10 Dec 2010
Feinstein Miora, Markus Barak, Noyman Iris, Shalev Hannah, Flusser Hagit, Shelef Ilan, Liani-Leibson Keren, Shorer Zamir, Cohen Idan, Khateeb Shareef, Sivan Sara, Birk Ohad S
Abstract excerpt
Pelizaeus-Merzbacher disease is an X-linked hypomyelinating leukodystrophy caused by PLP1 mutations. A similar autosomal-recessive phenotype, Pelizaeus-Merzbacher-like disease (PMLD), has been shown to be caused by homozygous mutations in GJC2 or HSPD1. We report a consanguineous Israeli Bedouin kindred with clinical and radiological findings compatible with PMLD in which linkage to PLP1, GJC2, and HSPD1 was...
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