. . . . . . . "[Congenital hypomyelinating neuropathy is a rare condition characterized by prenatal, neonatal or early infantile onset of hypotonia, paresis and areflexia.Here we describe a family with a heterozygous mutation in MPZ, confirmed in two generations.]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en . . . . . "2009-03-31"^^ . . "Gene-disease associations inferred from text-mining the literature."@en . "DisGeNET evidence - LITERATURE"@en . "2017-10-17T13:14:42+02:00"^^ . . . . . . . . . . . "v5.0.0.0" . "v5.0.0" .