Carriers and patients with muscle–eye–brain disease can be rapidly diagnosed by enzymatic analysis of fibroblasts and lymphoblasts
Authors:
- Jiri VajsarJVJiri Vajsar
- Wenli ZhangWZWenli Zhang
- William B. DobynsWDWilliam B. Dobyns
- Doug BiggarDBDoug Biggar
- Kenton R. HoldenKHKenton R. Holden
- Cynthia HawkinsCHCynthia Hawkins
- Peter RayPRPeter Ray
- Ann H. OlneyAOAnn H. Olney
- Catherine M. BursonCBCatherine M. Burson
- Anand K. SrivastavaASAnand K. Srivastava
- Harry SchachterHSHarry Schachter
- 1 February 2006
- journal article
- case report
- Published by Elsevier in Neuromuscular Disorders
- Vol. 16 (2) , 132-136
Abstract
No abstract availableKeywords
This publication has 18 references indexed in Scilit:
- Mutations of the POMT1 gene found in patients with Walker–Warburg syndrome lead to a defect of protein O-mannosylationBiochemical and Biophysical Research Communications, 2004
- The congenital muscular dystrophies in 2004: a century of exciting progressNeuromuscular Disorders, 2004
- Glycosylation eases muscular dystrophyNature Medicine, 2004
- Defective glycosylation in congenital muscular dystrophiesCurrent Opinion in Neurology, 2004
- Mutations in the human LARGE gene cause MDC1D, a novel form of congenital muscular dystrophy with severe mental retardation and abnormal glycosylation of -dystroglycanHuman Molecular Genetics, 2003
- Phenotypic spectrum associated with mutations in the fukutin‐related protein geneAnnals of Neurology, 2003
- Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg SyndromeThe American Journal of Human Genetics, 2002
- Muscular Dystrophy and Neuronal Migration Disorder Caused by Mutations in a Glycosyltransferase, POMGnT1Developmental Cell, 2001
- Clinical and genetic distinction between Walker–Warburg syndrome and muscle–eye–brain diseaseNeurology, 2001
- Founder-haplotype analysis in Fukuyama-type congenital muscular dystrophy (FCMD)Human Genetics, 1998