Condition: MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
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.
PMID 24780531 2014 Congenital muscular dystrophy and generalized epilepsy caused by GMPPB mutations.
PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
PMID 27874200 2017 Two patients with GMPPB mutation: The overlapping phenotypes of limb-girdle myasthenic syndrome and limb-girdle muscular dystrophy dystroglycanopathy.
rs397509422 in
GMPPB;RNF123 gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
PMID 23894383 2013 Flow cytometry for the analysis of α-dystroglycan glycosylation in fibroblasts from patients 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 26133662 2015 Mutations in GMPPB cause congenital myasthenic syndrome and bridge myasthenic disorders with dystroglycanopathies.
PMID 28433477 2017 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.
PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
rs199922550 in
RNF123;GMPPB gene and
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 14
PMID 27766311 2016 Muscle involvement in limb-girdle muscular dystrophy with GMPPB deficiency (LGMD2T).
PMID 26310427 2015 GMPPB-Associated Dystroglycanopathy: Emerging Common Variants with Phenotype Correlation.
PMID 23768512 2013 Mutations in GDP-mannose pyrophosphorylase B cause congenital and limb-girdle muscular dystrophies associated with hypoglycosylation of α-dystroglycan.
PMID 28478914 2017 Late-onset limb-girdle muscular dystrophy caused by GMPPB mutations.
PMID 28433477 2017 Novel mutations in the C-terminal region of GMPPB causing limb-girdle muscular dystrophy overlapping with congenital myasthenic syndrome.