A new muscle glycogen storage disease associated with glycogenin-1 deficiency

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

Item
http://www.wikidata.org/entity/Q35142470
Glycogen metabolism in humansGlycogen metabolism has a key role in the cancer microenvironment and provides new targets for cancer therapyA novel mouse model that recapitulates adult-onset glycogenosis type 4Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1.Cardiomyopathy as presenting sign of glycogenin-1 deficiency-report of three cases and review of the literature.High-throughput discovery of novel developmental phenotypes.Getting a handle on glycogen synthase - Its interaction with glycogenin.Genetic Characterization of a French Cohort of GNE-mutation negative inclusion body myopathy patients with exome sequencing.GYG1 gene mutations in a family with polyglucosan body myopathy.The investigation and management of metabolic myopathies.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.Adult polyglucosan body disease presenting as a unilateral progressive plexopathy.Severe asymmetric muscle weakness revealing glycogenin-1 polyglucosan body myopathy.
P2860

A new muscle glycogen storage disease associated with glycogenin-1 deficiency

Item
http://www.wikidata.org/entity/Q35142470
description
2014 nî lūn-bûn
@nan
2014 թուականի Հոկտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի հոտեմբերին հրատարակված գիտական հոդված
@hy
2014年の論文
@ja
2014年論文
@yue
2014年論文
@zh-hant
2014年論文
@zh-hk
2014年論文
@zh-mo
2014年論文
@zh-tw
2014年论文
@wuu
name
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@ast
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@en
type
label
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@ast
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@en
prefLabel
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@ast
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@en
P1433
P1476
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932
P356
P1433
P1476
A new muscle glycogen storage disease associated with glycogenin-1 deficiency
@en
P2093
P2860
P304
P31
P356
P433
P478
P50
P577
P5875
P698
P932