LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Item
http://www.wikidata.org/entity/Q46481564
LGMD2I in a North American populationHomozygous nonsense mutation in SGCA is a common cause of limb-girdle muscular dystrophy in Assiut, Egypt.Calpain 3 is important for muscle regeneration: evidence from patients with limb girdle muscular dystrophies.Level of muscle regeneration in limb-girdle muscular dystrophy type 2I relates to genotype and clinical severity.Muscular Dystrophy Surveillance Tracking and Research Network (MD STARnet): case definition in surveillance for childhood-onset Duchenne/Becker muscular dystrophy.Neo-epitope Peptides as Biomarkers of Disease Progression for Muscular Dystrophies and Other Myopathies.Dose-dependent restoration of dystrophin expression in cardiac muscle of dystrophic mice by systemically delivered morpholino.Limb-girdle muscular dystrophy type 2I: two Chinese families and a review in Asian patients.A heterozygous 21-bp deletion in CAPN3 causes dominantly inherited limb girdle muscular dystrophy.cDNA analyses of CAPN3 enhance mutation detection and reveal a low prevalence of LGMD2A patients in Denmark.Contractile properties are disrupted in Becker muscular dystrophy, but not in limb girdle type 2I.Clinical Utility Gene Card for: Becker muscular dystrophy.Immunodetection analysis of muscular dystrophies in Mexico.Magnetic Resonance Imaging Findings in the Muscle Tissue of Patients with Limb Girdle Muscular Dystrophy Type 2I Harboring the Founder Mutation c.545A>G in the FKRP Gene.Clinical and muscle biopsy findings in Norwegian paediatric patients with limb girdle muscular dystrophy 2I
P2860

LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.

Item
http://www.wikidata.org/entity/Q46481564
description
2005 nî lūn-bûn
@nan
2005年の論文
@ja
2005年学术文章
@wuu
2005年学术文章
@zh
2005年学术文章
@zh-cn
2005年学术文章
@zh-hans
2005年学术文章
@zh-my
2005年学术文章
@zh-sg
2005年學術文章
@yue
2005年學術文章
@zh-hant
name
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@en
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@nl
type
label
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@en
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@nl
prefLabel
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@en
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype.
@nl
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
LGMD2I presenting with a characteristic Duchenne or Becker muscular dystrophy phenotype
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000157654.59374.E5
P407
P433
P478
P50
P577
P698