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FKRP and congenital myopathy are reported together in 2 articles.
Gene
FKRP
- HGNC
- HGNC:17997
2articles
2mentions
0variants with confirmed gene link
Most co-reported phenotypes (articles)
Phenotype
Congenital myopathy
134articles
134mentions
12co-reported genes shown
Most co-reported genes (articles)
Counts are literature co-mentions in SaudiVarKB, not clinical or causal assertions. Gene details: HGNC; variant status: ClinVar via dbSNP.
Publications
2 records shown · first 60Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort.
PMID 39232665 | PMCID PMC11373090 | DOI 10.1186/s12883-024-03838-2 · BMC neurology · 2024 · 4 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FKRP | “In genetically confirmed LGMD, the most prevalent disorders were dysferlinopathy (27%) followed by fukutin-related protein (FKRP) - related limb girdle muscular dystrophy (20%), sarcoglycanopathy (20%), lamin A/C related myopathy (13%), and calpain-3 myopathy (13%).” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “BACKGROUND: Diagnosis of hereditary myopathy is often challenging owing to overlapping clinical phenotypes and muscle histopathological findings.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | DMPK | “The sensitivity of each genetic testing method was as follows: 100% for targeted single-gene analysis, 100% for targeted analysis of D4Z4 repeat array units, 88% for myotonic dystrophy protein kinase (DMPK) repeat expansion analysis, 42% for NGS-neuromuscular panel, and 46% for WES.” | 0.98 | hgnc_dict_v1 |
| population | Saudi Arabia, Riyadh | “Clinical and genetic evaluation of hereditary myopathies in an adult Saudi cohort. This retrospective study aimed to identify the phenotypic and genotypic spectra of hereditary myopathies at a tertiary hospital in Riyadh, Saudi Arabia. RESULTS: Eighty-seven patients (78 families) were included, two-thirds were men with a mean age of 35 (SD 14.2) years.” | 0.95 | saudi_context_rules_v1 |
A first-line diagnostic assay for limb-girdle muscular dystrophy and other myopathies.
PMID 27671536 | PMCID PMC5037890 | DOI 10.1186/s40246-016-0089-8 · Human genomics · 2016 · 8 validated mentions
Evidence preview
| Type | Entity | Source evidence | Confidence | Extractor |
|---|---|---|---|---|
| gene | FKRP | “Mutations of DYSF were the most commonly identified cause of disease followed by that in CAPN3 and FKRP.” | 0.98 | hgnc_dict_v1 |
| phenotype | congenital myopathy | “BACKGROUND: Fifty random genetically unstudied families (limb-girdle muscular dystrophy (LGMD)/myopathy) were screened with a gene panel incorporating 759 OMIM genes associated with neurological disorders.” | 0.93 | phenotype_alias_lexicon_v2 |
| gene | DYSF | “Mutations of DYSF were the most commonly identified cause of disease followed by that in CAPN3 and FKRP.” | 0.98 | hgnc_dict_v1 |
| gene | CAPN3 | “Mutations of DYSF were the most commonly identified cause of disease followed by that in CAPN3 and FKRP.” | 0.98 | hgnc_dict_v1 |