A novel large deletion in the RYR1 gene in a Belgian family with late-onset and recessive core myopathy.
We report a novel and particularly unusual type of mutation, namely, large deletion in the RYR1 gene, in a Belgian family with myopathy: Patients were found to be compound heterozygous and presented a clinico-pathological phenotype characterized by late-onset and recessive myopathy with cores. We depict the clinical, electrophysiological, pathological and molecular genetic characteristics of family members. To date, large deletions in the RYR1 gene have been reported in only two cases. Both involved different mutations and, in sharp contrast to our cases, presented with a very early-onset, neonatal, and a very severe or lethal phenotype. Overview of reported clinico-pathologic phenotypes, also highlights the rarity of combined late-onset/recessive co-occurrence in this group of myopathies with cores. Finally, this report underlines the broadening spectrum in this group of myopathologic disorders and highlights the concept of 'RYR1-associated/related core myopathies'.
Centre de Référence Neuromusculaire, Service de Neurologie, Hôpital Erasme, Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.
Gauthier
G
Remiche
Unité de Neuropathologie, CHU Brugmann, Université Libre de Bruxelles (U.L.B.), Brussels, Belgium. Electronic address: Hazim.Kadhim@chu-brugmann.be.
Hazim
H
Kadhim
Service de Génétique médicale, Hôpital Erasme, Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.
Marc
M
Abramowicz
Centre de Référence Neuromusculaire, Service de Neurologie, Hôpital Erasme, Université Libre de Bruxelles (U.L.B.), Brussels, Belgium.
Nicolas
N
Mavroudakis
Biochimie et Génétique moléculaire, Institut de Biologie et Pathologie, CHU Grenoble, France.
Nicole
N
Monnier
Biochimie et Génétique moléculaire, Institut de Biologie et Pathologie, CHU Grenoble, France.
Joël
J
Lunardi
D000328:Adult; D000368:Aged; D000369:Aged, 80 and over; D001530:Belgium; D005190:Family; D005260:Female; D017353:Gene Deletion; D006801:Humans; D002479:Inclusion Bodies / Q000378:metabolism / Q000473:pathology; D000067562:Late Onset Disorders / Q000235:genetics / Q000473:pathology; D008297:Male; D008875:Middle Aged; D009135:Muscular Diseases / Q000235:genetics* / Q000473:pathology*; D010375:Pedigree; D010641:Phenotype; D019837:Ryanodine Receptor Calcium Release Channel / Q000235:genetics*; D044465:White People; D055815:Young Adult
D019837:Ryanodine Receptor Calcium Release Channel
Central core disease; Core myopathy; Deletion; Mutation; Pathology; RYR1 gene