To our knowledge, these data represent the first identification of causative mutations in the RYR1 gene in patients with tubular aggregate myopathy and extend the spectrum of histological alterations caused by mutation in the RYR1 gene.Ībbreviations ASPH aspartyl/asparaginyl beta‐hydroxylase encoding gene ATP2A1 ATPase sarcoplasmic/endoplasmic reticulum Ca 2+ transporting 1 gene CACNA1S calcium voltage‐gated channel subunit alpha1 S coding gene CASQ1 calsequestrin1 coding gene CCD central core disease CFTD congenital fibre‐type disproportion CK creatine kinase CNM centronuclear myopathy DHPR dihydropyridine receptor DuCD dusty core disease FXYD1 FXYD domain containing ion transport regulator 1 gene encoding or Phospholemman HRC histidine rich calcium binding protein coding gene JPH1 junctophilin 1 coding gene JPH2 junctophilin 2 coding gene KCNA1 potassium voltage‐gated channel subfamily A member 1 coding gene MHS malignant hyperthermia susceptibility MmD multiminicore disease MRI magnetic resonance imaging MYH7 myosin heavy chain 7 coding gene NADH‐TR NADH‐tetrazolium reductase ORAI1 (CRAMC1) calcium release‐activated calcium channel protein 1 coding gene RYR1 ryanodine receptor 1 coding gene SDH succinate dehydrogenase SEPN1 selenoprotein N coding gene SERCA sarcoendoplasmic reticulum calcium ATPase SLN sarcolipin coding gene SOCE store‐operated calcium entry SPEG striated muscle enriched protein kinase coding gene SRL sarcalumenin coding gene STAC3 SH3 and cysteine‐rich domain 3 gene STIM1 stromal interaction molecule 1 coding gene TA tubular aggregates TAM tubular aggregate myopathy TRDN triadin coding gene TRPC3 transient receptor potential cation channel subfamily C member 3 coding gene The identified RYR1 mutations (p.Thr2206Met or p.Gly2434Arg, in patient 1 and patient 2, respectively) were previously identified in individuals with malignant hyperthermia susceptibility and are reported as causative according to the European Malignant Hyperthermia Group rules.
They reported stiffness of the muscles following sustained activity or cold exposure and had serum creatine kinase elevation.
These patients were clinically evaluated and underwent routine laboratory investigations, electrophysiologic tests, muscle biopsy and muscle magnetic resonance imaging (MRI). Two likely causative mutations in the RYR1 gene were identified in two patients with myopathy with tubular aggregates, but no evidence of cores or core‐like pathology on muscle biopsy.
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