Article
Familial Pelizaeus-Merzbacher disease caused by a 320.6-kb Xq22.2 duplication and the pathological findings of a male fetus.
Birth defects research. Part A, Clinical and molecular teratology - 1 Jun 2012
Kitsiou-Tzeli Sophia, Konstantinidou Anastasia, Sofocleous Christalena, Kosma Konstantina, Syrmou Areti, Giannikou Krinio, Sifakis Stavros, Makrythanasis Periklis, Tzetis Maria
Abstract excerpt
BACKGROUND: Pelizaeus-Merzbacher disease (PMD) is a recessive, X-linked leukoencephalopathy attributed to impaired myelination during central nervous system development, caused by defects in the proteolipid protein 1 (PLP1) gene. PMD presents clinical variability, ranging from the severe connatal form to the classic form. CASES: We report the clinical and molecular findings of two affected males, three carrier...
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