Gene | Score gda | Association Type | Type | Original DB | Sentence supporting the association | PMID | PMID Year | ||||
---|---|---|---|---|---|---|---|---|---|---|---|
|
0.080 | GeneticVariation | disease | BEFREE | The mechanism by which recessive SELENON variants cause Multiminicore disease (MmD) is unclear. | 30932294 | 2019 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. | 22784669 | 2012 | ||||
|
0.080 | Biomarker | disease | BEFREE | Selenoprotein N-related myopathy (SEPN1-RM) is an early-onset muscle disorder that can manifest clinically as congenital muscular dystrophy with spinal rigidity and can result in specific pathological entities such as multiminicore disease, desmin-related myopathy with Mallory body-like inclusions, and congenital fiber-type disproportion. | 20937510 | 2011 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Conversely, all Ca-related proteins were distributed normally in 5 MmD cases with SelN mutations. | 17204937 | 2007 | ||||
|
0.080 | Biomarker | disease | BEFREE | Management is mainly supportive and has to address the risk of marked respiratory impairment in SEPN1-related MmD and the possibility of malignant hyperthermia susceptibility in RYR1-related forms. | 17631035 | 2007 | ||||
|
0.080 | Biomarker | disease | BEFREE | Genetic heterogeneity is recognized and up to now mutations in the genes of RYR1 and SEPN1 have been detected.We record three unrelated cases of MmD. | 15608948 | 2004 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | Recently, we identified the selenoprotein N gene (SEPN1) as responsible for SEPN-related myopathy (SEPN-RM), a unique early-onset myopathy formerly divided in two different nosological categories: rigid spine muscular dystrophy and the severe form of classical multiminicore disease. | 15122708 | 2004 | ||||
|
0.080 | GeneticVariation | disease | BEFREE | We excluded linkage to RSMD1 in 19 families with MmD, including 9 with classical MmD. | 12192640 | 2002 |