|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
|
25770200 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
GeneticVariation
|
UNIPROT |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
|
0.800 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Clinical features of the myasthenic syndrome arising from mutations in GMPPB.
|
27147698 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
|
25770200 |
2015 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
|
25770200 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |
|
Muscular Dystrophy
|
|
0.700 |
CausalMutation
|
CLINVAR |
Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
|
23768512 |
2013 |