|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
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
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
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 (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
|
27874200 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
|
28433477 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
|
28478914 |
2017 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
|
27766311 |
2016 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
|
26133662 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
GeneticVariation
|
disease |
UNIPROT |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data.
|
25529582 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.
|
25770200 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
|
0.700 |
CausalMutation
|
disease |
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
|
disease |
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
|
disease |
CLINVAR |
Expanding the phenotype of GMPPB mutations.
|
25681410 |
2015 |
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14
|
0.700 |
CausalMutation
|
disease |
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 |
GeneticVariation
|
disease |
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
|
disease |
CLINVAR |
GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
|
26310427 |
2015 |