title: Muscle imaging in dominant core myopathies linked or unlinked to the ryanodine receptor 1 gene.
abstract: OBJECTIVE
  To characterize the muscle involvement of patients with central core disease (CCD) caused by mutations in the ryanodine receptor 1 gene (RYR1) and to compare these findings with those from patients with core myopathies unlinked to the RYR1 gene.
  
  
  METHODS
  We performed a systematic muscular imaging assessment in 11 patients with an RYR1 gene mutation and compared these findings with those of 5 patients from two unrelated families with autosomal dominant core myopathies not linked to RYR1, ACTA1, or MYH7 gene loci.
  
  
  RESULTS
  All patients with RYR1 CCD had a characteristic pattern with predominant involvement of the gluteus maximus, adductor magnus, sartorius, vastus intermediolateralis, soleus, and lateral gastrocnemius muscles. In contrast, muscle CT in the first family not linked to RYR1 showed predominant affection of the gluteus minimus and hamstring muscles, whereas the second family presented with predominant involvement of the gluteus minimus, vastus intermediolateralis, tibialis anterior, and medial gastrocnemius muscles. In addition to muscle imaging data, we present detailed information on the clinical and pathologic findings of these novel phenotypes of core myopathies not linked to RYR1.
  
  
  CONCLUSIONS
  Our data suggest genetic heterogeneity in autosomal dominant core myopathies and the existence of additional unidentified genes.
authors.affiliation: Institut National de la Santé et de la Recherche Médicale U582, Paris, France.
authors.forename: D
authors.initials: D
authors.lastname: Fischer
authors.forename: M
authors.initials: M
authors.lastname: Herasse
authors.forename: A
authors.initials: A
authors.lastname: Ferreiro
authors.forename: H M
authors.initials: HM
authors.lastname: Barragán-Campos
authors.forename: J
authors.initials: J
authors.lastname: Chiras
authors.forename: L
authors.initials: L
authors.lastname: Viollet
authors.forename: S
authors.initials: S
authors.lastname: Maugenre
authors.forename: J-P
authors.initials: JP
authors.lastname: Leroy
authors.forename: N
authors.initials: N
authors.lastname: Monnier
authors.forename: J
authors.initials: J
authors.lastname: Lunardi
authors.forename: P
authors.initials: P
authors.lastname: Guicheney
authors.forename: M
authors.initials: M
authors.lastname: Fardeau
authors.forename: N B
authors.initials: NB
authors.lastname: Romero
mesh_terms: D025063:Chromosome Disorders / Q000235:genetics* / Q000473:pathology*; D020022:Genetic Predisposition to Disease / Q000235:genetics; D006801:Humans; D018482:Muscle, Skeletal / Q000473:pathology*; D020512:Myopathy, Central Core / Q000235:genetics* / Q000473:pathology*; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D013223:Statistics as Topic
chemical_list: D019837:Ryanodine Receptor Calcium Release Channel