GYG1 gene mutations in a family with polyglucosan body myopathy.
about
Var2GO: a web-based tool for gene variants selection.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.First Report on Fetal Cerebral Polyglucosan Bodies in Mucopolysaccharidosis Type VII.Clinical heterogeneity and phenotype/genotype findings in 5 families with GYG1 deficiency.Polyglucosan myopathy and functional characterization of a novel GYG1 mutation.Start codon mutation of GYG1 causing late-onset polyglucosan body myopathy with nemaline rods.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.
P2860
Q36276497-7D1A3F43-1138-45AE-8723-BDC9C328F42DQ37547485-178C280F-9B44-4104-BB1C-D98A5C557E63Q41101251-8E615588-9FB1-4975-8423-74258E72CA06Q47152385-8EB3A08B-886E-4F9E-A24C-BE2EAB55F436Q47397475-BC26E398-4F93-4043-A385-41A6783ECAD5Q48103309-1E33A987-953C-441D-8CAE-E07E2FCD043AQ50073697-46E097C1-CA9E-414B-AE9D-5EC301BC3A8B
P2860
GYG1 gene mutations in a family with polyglucosan body myopathy.
description
2015 nî lūn-bûn
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2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
2015年论文
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2015年论文
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name
GYG1 gene mutations in a family with polyglucosan body myopathy.
@en
GYG1 gene mutations in a family with polyglucosan body myopathy.
@nl
type
label
GYG1 gene mutations in a family with polyglucosan body myopathy.
@en
GYG1 gene mutations in a family with polyglucosan body myopathy.
@nl
prefLabel
GYG1 gene mutations in a family with polyglucosan body myopathy.
@en
GYG1 gene mutations in a family with polyglucosan body myopathy.
@nl
P2093
P2860
P1433
P1476
GYG1 gene mutations in a family with polyglucosan body myopathy.
@en
P2093
Annalaura Torella
Marina Fanin
Vincenzo Nigro
P2860
P356
10.1212/NXG.0000000000000021
P577
2015-09-24T00:00:00Z