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.
about
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCandidate-gene testing for orphan limb-girdle muscular dystrophiesThe potential of sarcospan in adhesion complex replacement therapeutics for the treatment of muscular dystrophyGolgi complex organization in skeletal muscle: a role for Golgi-mediated glycosylation in muscular dystrophies?A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesisExpression of the murine Pomt1 gene in both the developing brain and adult muscle tissues and its relationship with clinical aspects of Walker-Warburg syndromeCardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentationsLimb-girdle muscular dystrophies: where next after six decades from the first proposal (Review).Transgenic overexpression of LARGE induces α-dystroglycan hyperglycosylation in skeletal and cardiac muscleThe dystroglycanopathies: the new disorders of O-linked glycosylationMammalian O-mannosylation of cadherins and plexins is independent of protein O-mannosyltransferases 1 and 2.Physical and functional association of human protein O-mannosyltransferases 1 and 2.Protein O-mannosylation: conserved from bacteria to humans.Evidence-based guideline summary: evaluation, diagnosis, and management of congenital muscular dystrophy: Report of the Guideline Development Subcommittee of the American Academy of Neurology and the Practice Issues Review Panel of the American AssoISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy casesIntragenic deletion in the LARGE gene causes Walker-Warburg syndrome.Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephalyMechanisms of disease: congenital muscular dystrophies-glycosylation takes center stage.Congenital protein hypoglycosylation diseases.Calpain 3, the "gatekeeper" of proper sarcomere assembly, turnover and maintenance.Muscular dystrophy associated with alpha-dystroglycan deficiency in Sphynx and Devon Rex cats.Muscular dystrophies due to defective glycosylation of dystroglycan.Congenital muscular dystrophy. Part I: a review of phenotypical and diagnostic aspects.Congenital muscular dystrophy. Part II: a review of pathogenesis and therapeutic perspectives.The Classification, Natural History and Treatment of the Limb Girdle Muscular DystrophiesThe roles of the dystrophin-associated glycoprotein complex at the synapseA novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.Epidemiology of muscular dystrophies in the Mediterranean area.Genetic basis of limb-girdle muscular dystrophies: the 2014 updatePrenatal diagnosis of congenital myopathies and muscular dystrophies.POMT2, a key enzyme in Walker-Warburg syndrome: somatic sPOMT2, but not testis-specific tPOMT2, is crucial for mannosyltransferase activity in vivo.Functional Similarities between the Protein O-Mannosyltransferases Pmt4 from Bakers' Yeast and Human POMT1.Dystroglycan and dystroglycanopathies: report of the 187th ENMC Workshop 11-13 November 2011, Naarden, The NetherlandsMuscle dystroglycan organizes the postsynapse and regulates presynaptic neurotransmitter release at the Drosophila neuromuscular junction.Atypical manifestation of late onset limb girdle muscular dystrophy presenting with recurrent falling and shoulder dysfunction: a case report.Analysis of phenotype, enzyme activity and genotype of Chinese patients with POMT1 mutation.Reduced expression of fukutin related protein in mice results in a model for fukutin related protein associated muscular dystrophies.Limb Girdle Muscular Dystrophies
P2860
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P2860
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.
description
2005 nî lūn-bûn
@nan
2005 թուականի Ապրիլին հրատարակուած գիտական յօդուած
@hyw
2005 թվականի ապրիլին հրատարակված գիտական հոդված
@hy
2005年の論文
@ja
2005年論文
@yue
2005年論文
@zh-hant
2005年論文
@zh-hk
2005年論文
@zh-mo
2005年論文
@zh-tw
2005年论文
@wuu
name
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@ast
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@en
An autosomal recessive limb girdle muscular dystrophy
@nl
type
label
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@ast
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@en
An autosomal recessive limb girdle muscular dystrophy
@nl
prefLabel
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@ast
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@en
An autosomal recessive limb girdle muscular dystrophy
@nl
P2093
P1476
An autosomal recessive limb gi ...... a mutation in the POMT1 gene.
@en
P2093
Beril Talim
Burcu Balci
Claudia Gross
Gökhan Uyanik
Göknur Haliloglu
Gülsev Kale
Haluk Topaloğlu
Jürgen Winkler
Pervin Dincer
Tobias Willer
P304
P356
10.1016/J.NMD.2005.01.013
P577
2005-04-01T00:00:00Z