Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
J Vajsar, W Zhang, WB Dobyns, D Biggar… - Neuromuscular …, 2006 - Elsevier
We report a new fibroblast and lymphoblast based protein O-mannosyl β-1, 2-N-
acetylglucosaminyltransferase 1 enzymatic assay, which allows rapid and accurate
diagnosis of carriers and patients with muscle–eye–brain type of congenital muscular
dystrophy. Seven patients with genetically confirmed muscle–eye–brain disease were
assayed for protein O-mannosyl β-1, 2-N-acetylglucosaminyltransferase 1 enzyme activity.
In three patients and their heterozygous parents, the assays were done on EBV-transformed …
acetylglucosaminyltransferase 1 enzymatic assay, which allows rapid and accurate
diagnosis of carriers and patients with muscle–eye–brain type of congenital muscular
dystrophy. Seven patients with genetically confirmed muscle–eye–brain disease were
assayed for protein O-mannosyl β-1, 2-N-acetylglucosaminyltransferase 1 enzyme activity.
In three patients and their heterozygous parents, the assays were done on EBV-transformed …
