MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
|
29910097 |
2018 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
GermlineCausalMutation
|
disease |
ORPHANET |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
CausalMutation
|
disease |
CLINVAR |
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
|
24556084 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (LIMB-GIRDLE), TYPE C, 12
|
0.700 |
Biomarker
|
disease |
CTD_human |
|
|
|
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
|
29910097 |
2018 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
|
24556084 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
CausalMutation
|
disease |
CLINVAR |
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
|
24556084 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
|
24556084 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
POMK mutations disrupt muscle development leading to a spectrum of neuromuscular presentations.
|
24925318 |
2014 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
SGK196 is a glycosylation-specific O-mannose kinase required for dystroglycan function.
|
23929950 |
2013 |
MUSCULAR DYSTROPHY-DYSTROGLYCANOPATHY (CONGENITAL WITH BRAIN AND EYE ANOMALIES), TYPE A, 12
|
0.600 |
GeneticVariation
|
disease |
UNIPROT |
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
|
23519211 |
2013 |
Walker-Warburg congenital muscular dystrophy
|
0.510 |
GeneticVariation
|
disease |
BEFREE |
Here, we describe two families carrying different truncating alleles, both removing the kinase domain in POMK, with different clinical manifestations ranging from Walker-Warburg syndrome, the most severe form of dystroglycanopathy, to limb-girdle muscular dystrophy with cognitive defects.
|
24925318 |
2014 |
Walker-Warburg congenital muscular dystrophy
|
0.510 |
GermlineCausalMutation
|
disease |
ORPHANET |
Deciphering the glycosylome of dystroglycanopathies using haploid screens for lassa virus entry.
|
23519211 |
2013 |
Walker-Warburg congenital muscular dystrophy
|
0.510 |
Biomarker
|
disease |
CTD_human |
|
|
|
Congenital muscular dystrophy (disorder)
|
0.410 |
Biomarker
|
disease |
BEFREE |
Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12).
|
31833209 |
2020 |
Congenital muscular dystrophy (disorder)
|
0.410 |
Biomarker
|
disease |
GENOMICS_ENGLAND |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
|
29910097 |
2018 |
Congenital muscular dystrophy (disorder)
|
0.410 |
Biomarker
|
disease |
HPO |
|
|
|
Muscular Dystrophies, Limb-Girdle
|
0.320 |
GeneticVariation
|
group |
BEFREE |
Biallelic pathogenic variants in POMK gene are associated with two types of dystroglycanopathies: limb-girdle muscular dystrophy-dystroglycanopathy, type C12 (MDDGC12), and congenital muscular dystrophy-dystroglycanopathy with brain and eye anomalies, type A12 (MDDGA12).
|
31833209 |
2020 |
Muscular Dystrophies, Limb-Girdle
|
0.320 |
GeneticVariation
|
group |
BEFREE |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
|
29910097 |
2018 |
Muscular Dystrophies, Limb-Girdle
|
0.320 |
Biomarker
|
group |
GENOMICS_ENGLAND |
A novel compound heterozygous mutation in the POMK gene causing limb-girdle muscular dystrophy-dystroglycanopathy in a sib pair.
|
29910097 |
2018 |