about
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
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P2860
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
P2093
P50
P1433
P1476
Expanding the clinical spectrum of POMT1 phenotype
@en
P2093
F M Santorelli
R Biancheri
P304
1564-7; discussion 1461
P356
10.1212/01.WNL.0000216145.66476.36
P407
P577
2006-05-01T00:00:00Z