Article
A splicing mutation in the alpha/beta GlcNAc-1-phosphotransferase gene results in an adult onset form of mucolipidosis III associated with sensory neuropathy and cardiomyopathy.
American journal of medical genetics. Part A - 1 Feb 2005
Steet Richard A, Hullin Roger, Kudo Mariko, Martinelli Michele, Bosshard Nils U, Schaffner Thomas, Kornfeld Stuart, Steinmann Beat
Abstract excerpt
A 47-year-old female who presented with a dilated cardiomyopathy and mild neuropathy was found to have pseudoHurler polydystrophy (mucolipidosis III). The serum lysosomal enzymes were strikingly elevated and GlcNAc-1-phosphotransferase activity in the patient's fibroblasts was 3% of normal. Sequence analysis of the patient's genomic DNA revealed a homozygous mutation of the last nucleotide of the 135-bp exon 7 of...
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