2013
DOI: 10.1007/s00415-012-6817-7
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A novel late-onset axial myopathy associated with mutations in the skeletal muscle ryanodine receptor (RYR1) gene

Abstract: Mutations in the skeletal muscle ryanodine receptor (RYR1) gene are a common cause of inherited neuromuscular disorders and have been associated with a wide clinical spectrum, ranging from various congenital myopathies to the malignant hyperthermia susceptibility (MHS) trait without any associated weakness. RYR1-related myopathies are usually of early-childhood onset. Here we present 11 patients from 8 families with a late-onset axial myopathy associated with RYR1 variants. Patients presented between the third… Show more

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Cited by 73 publications
(67 citation statements)
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“…2) corresponding to the following domains in the amino acid sequence: regions 1 (C35–R614) and 2 (D2129–R2458) reside in the myoplasmic foot domain of the protein, whereas region 3 (I3916–G4942) is located in the transmembrane/luminal region of the highly conserved carboxy-terminal domain, important for allowing Ca 2+ flux through the channel (Zalk et al 2015). Mutations in RyR1 are also associated with other rare RyR1 related congenital myopathies including centronuclear myopathy, multi-minicore disease, Samaritan myopathy, heat/exercise induced exertional rhabdomyolysis, congenital fiber-type disproportion, late-onset axial myopathy, and atypical periodic paralyses (Bharucha-Goebel et al 2013; Zvaritch et al 2009; Ferreiro et al 2002; Capacchione et al 2010; Zhou et al 2010; Inui et al 1987; Takeshima et al 1989; Loseth et al 2013). …”
Section: Malignant Hyperthermia (Mh)mentioning
confidence: 99%
“…2) corresponding to the following domains in the amino acid sequence: regions 1 (C35–R614) and 2 (D2129–R2458) reside in the myoplasmic foot domain of the protein, whereas region 3 (I3916–G4942) is located in the transmembrane/luminal region of the highly conserved carboxy-terminal domain, important for allowing Ca 2+ flux through the channel (Zalk et al 2015). Mutations in RyR1 are also associated with other rare RyR1 related congenital myopathies including centronuclear myopathy, multi-minicore disease, Samaritan myopathy, heat/exercise induced exertional rhabdomyolysis, congenital fiber-type disproportion, late-onset axial myopathy, and atypical periodic paralyses (Bharucha-Goebel et al 2013; Zvaritch et al 2009; Ferreiro et al 2002; Capacchione et al 2010; Zhou et al 2010; Inui et al 1987; Takeshima et al 1989; Loseth et al 2013). …”
Section: Malignant Hyperthermia (Mh)mentioning
confidence: 99%
“…A marked interpersonal and even intrafamilial variation in phenotype has been evident in previous reports. [3][4][5][6] Typical muscle histopathology includes type 1 muscle fibers with central amorphous areas of sarcomeric disorganization characterized by the absence of mitochondria and of oxidative enzymatic activity ("cores"). 7 In recent years, there has been an increased awareness of a marked clinical variability and histopathologic overlap with other myopathies, precluding a direct diagnosis.…”
Section: Introductionmentioning
confidence: 99%
“…Dominant mutations in RYR1 are most commonly associated with the malignant hyperthermia susceptibility (MHS) trait [10], a pharmacogenetic reaction to halogenated anaesthetics and muscle relaxants, and CCD, a relatively mild, predominantly proximal congenital myopathy typically without significant extraocular or cardiorespiratory involvement. MHS-related RYR1 mutations have also been associated with 'induced' or adult-onset neuromuscular phenotypes, in particular exertional rhabdomyolysis [11] and late-onset axial myopathy [12]. Recessive mutations in RYR1 mainly cause Multi-minicore Disease with external ophthalmoplegia [13], but also subgroups of Centronuclear Myopathy (CNM) [14] and Congenital Fibre Type Disproportion (CFTD) [15] (see below).…”
Section: Core Myopathiesmentioning
confidence: 99%