Variant: rs142336618 

    present in Gene: GMPPB
    present in Chromosome: 3
    Position on Chromosome: 49723648
    Alleles of this Variant: C/G

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 14 PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH MENTAL RETARDATION), TYPE B, 14 PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

rs142336618 in GMPPB gene and MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14 PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 28433477 2017 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 25770200 2015 Intrafamilial variability in GMPPB-associated dystroglycanopathy: Broadening of the phenotype.

rs142336618 in GMPPB gene and Muscular Dystrophy PMID 27147698 2016 Clinical features of the myasthenic syndrome arising from mutations in GMPPB.

PMID 25681410 2015 Expanding the phenotype of GMPPB mutations.

PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.

PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.

PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.

PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).

PMID 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.