Expanding the clinical spectrum of POMT1 phenotype.

Expanding the clinical spectrum of POMT1 phenotype.

Item
http://www.wikidata.org/entity/Q41919581
A comparative study of alpha-dystroglycan glycosylation in dystroglycanopathies suggests that the hypoglycosylation of alpha-dystroglycan does not consistently correlate with clinical severityCongenital muscular dystrophies: a brief reviewBiochemical correlation of activity of the α-dystroglycan-modifying glycosyltransferase POMGnT1 with mutations in muscle-eye-brain disease.Cardiomyopathy in patients with POMT1-related congenital and limb-girdle muscular dystrophy.Diagnostic approach to the congenital muscular dystrophies.An immunological analysis of dystroglycan subunits: lessons learned from a small cohort of non-congenital dystrophic patients.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.A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations.
P2860

Expanding the clinical spectrum of POMT1 phenotype.

Item
http://www.wikidata.org/entity/Q41919581
description
2006 nî lūn-bûn
@nan
2006年の論文
@ja
2006年論文
@yue
2006年論文
@zh-hant
2006年論文
@zh-hk
2006年論文
@zh-mo
2006年論文
@zh-tw
2006年论文
@wuu
2006年论文
@zh
2006年论文
@zh-cn
name
Expanding the clinical spectrum of POMT1 phenotype.
@en
type
label
Expanding the clinical spectrum of POMT1 phenotype.
@en
prefLabel
Expanding the clinical spectrum of POMT1 phenotype.
@en
P1433
P1476
P2093
P304
P31
P356
P407
P433
P478
P50
P577
P698
P356
P1433
P1476
Expanding the clinical spectrum of POMT1 phenotype
@en
P2093
P304
P31
P356
10.1212/01.WNL.0000216145.66476.36
P407
P433
P478
P50
P577
P698