The human LARGE gene from 22q12.3-q13.1 is a new, distinct member of the glycosyltransferase gene family, Proceedings of the National Academy of Sciences, vol.96, issue.2, pp.598-603, 1999. ,
DOI : 10.1073/pnas.96.2.598
Demonstration of mammalian protein O-mannosyltransferase activity: Coexpression of POMT1 and POMT2 required for enzymatic activity, Proceedings of the National Academy of Sciences, vol.101, issue.2, pp.500-505, 2004. ,
DOI : 10.1073/pnas.0307228101
Mutations in the O-Mannosyltransferase Gene POMT1 Give Rise to the Severe Neuronal Migration Disorder Walker-Warburg Syndrome, The American Journal of Human Genetics, vol.71, issue.5, pp.1033-1043, 2002. ,
DOI : 10.1086/342975
Glyc-O-genetics of Walker-Warburg syndrome, Clinical Genetics, vol.127, issue.Spec No 2, pp.281-289, 2004. ,
DOI : 10.1111/j.1399-0004.2004.00368.x
POMT1 mutation results in defective glycosylation and loss of laminin-binding activity in ??-DG, Neurology, vol.62, issue.6, pp.1009-1011, 2004. ,
DOI : 10.1212/01.WNL.0000115386.28769.65
Mutations in POMT1 are found in a minority of patients with Walker-Warburg syndrome, Am J Med Genet A, vol.133, pp.53-57, 2005. ,
mutations: from Walker-Warburg syndrome to congenital muscular dystrophy, microcephaly, and mental retardation, Human Mutation, vol.13, issue.5, pp.453-459, 2006. ,
DOI : 10.1002/humu.20313
A novel form of recessive limb girdle muscular dystrophy with mental retardation and abnormal expression of ??-dystroglycan, Neuromuscular Disorders, vol.13, issue.10, pp.771-778, 2003. ,
DOI : 10.1016/S0960-8966(03)00161-5
An autosomal recessive limb girdle muscular dystrophy (LGMD2) with mild mental retardation is allelic to Walker???Warburg syndrome (WWS) caused by a mutation in the POMT1 gene, Neuromuscular Disorders, vol.15, issue.4, pp.271-275, 2005. ,
DOI : 10.1016/j.nmd.2005.01.013
Expanding the clinical spectrum of POMT1 phenotype, Neurology, vol.66, issue.10, pp.1564-1567, 2006. ,
DOI : 10.1212/01.wnl.0000216145.66476.36
POMT2 mutations cause ??-dystroglycan hypoglycosylation and Walker-Warburg syndrome, Journal of Medical Genetics, vol.42, issue.12, pp.907-912, 2005. ,
DOI : 10.1136/jmg.2005.031963
POMT2 mutation in a patient with ???MEB-like??? phenotype, Neuromuscular Disorders, vol.16, issue.7, pp.446-448, 2006. ,
DOI : 10.1016/j.nmd.2006.03.016
Muscle biopsy: a practical approach, 2006. ,
Walker-Warburg syndrome, Orphanet Journal of Rare Diseases, vol.1, issue.1, p.29, 2006. ,
DOI : 10.1186/1750-1172-1-29
A homozygous nonsense mutation in the Fukutin gene causes a Walker-Warburg syndrome phenotype, Journal of Medical Genetics, vol.40, issue.11, pp.845-848, 2003. ,
DOI : 10.1136/jmg.40.11.845
A new mutation of thefukutin gene in a non-Japanese patient, Annals of Neurology, vol.418, issue.3, pp.392-396, 2003. ,
DOI : 10.1002/ana.10491
Mutations in the FKRP gene can cause muscle-eye-brain disease and Walker-Warburg syndrome, Journal of Medical Genetics, vol.41, issue.5, p.61, 2004. ,
DOI : 10.1136/jmg.2003.013870
New FKRP mutations causing congenital muscular dystrophy associated with mental retardation and central nervous system abnormalities. Identification of a founder mutation in Tunisian families, Neurogenetics, vol.5, pp.27-34, 2004. ,
URL : https://hal.archives-ouvertes.fr/inserm-00201954
Brain MRI abnormalities in muscular dystrophy due to FKRP mutations, Brain and Development, vol.28, issue.4, pp.232-242, 2006. ,
DOI : 10.1016/j.braindev.2005.08.003
Spectrum of Brain Changes in Patients With Congenital Muscular Dystrophy and FKRP Gene Mutations, Archives of Neurology, vol.63, issue.2, pp.251-257, 2006. ,
DOI : 10.1001/archneur.63.2.251
Congenital muscular dystrophy associated with calf hypertrophy, microcephaly and severe mental retardation in three Italian families: evidence for a novel CMD syndrome, Neuromuscular Disorders, vol.10, issue.8, pp.541-547, 2000. ,
DOI : 10.1016/S0960-8966(00)00139-5