Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype
about
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.Clinical features of the myasthenic syndrome arising from mutations in GMPPB.B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.Mutations in GMPPB Presenting with Pseudometabolic Myopathy.
P2860
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype
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Intrafamilial variability in G ...... y: Broadening of the phenotype
@ast
Intrafamilial variability in G ...... y: Broadening of the phenotype
@en
type
label
Intrafamilial variability in G ...... y: Broadening of the phenotype
@ast
Intrafamilial variability in G ...... y: Broadening of the phenotype
@en
prefLabel
Intrafamilial variability in G ...... y: Broadening of the phenotype
@ast
Intrafamilial variability in G ...... y: Broadening of the phenotype
@en
P2093
P2860
P1433
P1476
Intrafamilial variability in G ...... y: Broadening of the phenotype
@en
P2093
Carsten G Bönnemann
Diana X Bharucha-Goebel
Edythe Wiggs
Jahannaz Dastgir
Sandra Donkervoort
Susan T Iannaccone
Thomas L Winder
P2860
P304
P356
10.1212/WNL.0000000000001440
P407
P577
2015-03-13T00:00:00Z