Minicore myopathy with ophthalmoplegia caused by mutations in the ryanodine receptor type 1 gene

No abstract is available for this paper.

• Publication year

  2005

• Venue

  Neurology

• Publication date

  2005-12-27

• Fields of study

  Biology, Medicine

• Identifiers
  DOI 10.1212/01.wnl.0000188870.37076.f2PMID 16380615
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Orphanet Journal of Rare Diseases BioMed Central Review Central core disease

  2007cited by this paper
• A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia.

  2003cited by this paper
• Dominant and recessive central core disease associated with RYR1 mutations and fetal akinesia.

  2003cited by this paper
• Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene.

  2003cited by this paper
• Autosomal recessive inheritance of RYR1 mutations in a congenital myopathy with cores

  2002cited by this paper
• Regulation of mammalian ryanodine receptors.

  2002cited by this paper
• Mutations of the selenoprotein N gene, which is implicated in rigid spine muscular dystrophy, cause the classical phenotype of multiminicore disease: reassessing the nosology of early-onset myopathies.

  2002cited by this paper
• A recessive form of central core disease, transiently presenting as multi‐minicore disease, is associated with a homozygous mutation in the ryanodine receptor type 1 gene

  2002cited by this paper
• Clinical and imaging findings in six cases of congenital muscular dystrophy with rigid spine syndrome linked to chromosome 1p (RSMD1).

  2002cited by this paper
• The spectrum of pathology in central core disease.

  2002cited by this paper
• North American Malignant Hyperthermia Population: Screening of the Ryanodine Receptor Gene and Identification of Novel Mutations

  2001cited by this paper
• Homozygous and heterozygous Arg614Cys mutations (1840C-->T) in the ryanodine receptor gene co-segregate with malignant hyperthermia susceptibility in a German family.

  2001cited by this paper
• Minicore myopathy in children: a clinical and histopathological study of 19 cases.

  2000cited by this paper
• Multi‐minicore disease–searching for boundaries: Phenotype analysis of 38 cases

  2000cited by this paper
• Mutation screening of the RYR1 gene and identification of two novel mutations in Italian malignant hyperthermia families

  1999cited by this paper
• Detection of a novel mutation in the ryanodine receptor gene in an Irish malignant hyperthermia pedigree: correlation of the IVCT response with the affected and unaffected haplotypes.

  1997cited by this paper
• A mutation in the human ryanodine receptor gene associated with central core disease

  1993cited by this paper
• Malignant Hyperthermia: A Review of Published Cases

  1993cited by this paper
• Polymorphisms and deduced amino acid substitutions in the coding sequence of the ryanodine receptor (RYR1) gene in individuals with malignant hyperthermia.

  1992cited by this paper
• Familial multicore disease with focal loss of cross-striations and ophthalmoplegia.

  1981cited by this paper
• [Multicore disease].

  1973cited by this paper
• Multicore disease. A recently recognized congenital myopathy associated with multifocal degeneration of muscle fibers.

  1971cited by this paper

• Limited pre-clinical relevance of the heterozygous RYR1-I4895T/+ mouse model due to its mild phenotype.

  2025cites this paper
• 277th ENMC international workshop: Congenital myopathies: revising and revisiting nomenclature and diagnostic guidelines, 21-23 June 2024, Hoofddorp, The Netherlands.

  2025cites this paper
• Homozygous missense variant in exon 66 of the RYR1 gene causing congenital myopathy 1B

  2025cites this paper
• A founder variant in the RYR1 gene is associated with hyperCKemia, myalgia and muscle cramps

  2025cites this paper
• VMA21-X-linked myopathy in Peru: characterization of three families.

  2025cites this paper
• Challenges in genetic counseling for RYR1-related myopathies.

  2025cites this paper
• Compound heterozygous RYR1‐RM mouse model reveals disease pathomechanisms and muscle adaptations to promote postnatal survival

  2024cites this paper
• Exploring the Impact of Genetics in a Large Cohort of Moebius Patients by Trio Whole Exome Sequencing

  2024cites this paper
• Massive reduction of RyR1 in muscle spindles of mice carrying recessive Ryr1 mutations alters proprioception and causes scoliosis

  2024cites this paper
• Molecular Aspects Implicated in Dantrolene Selectivity with Respect to Ryanodine Receptor Isoforms

  2023cites this paper
• Neonatal and infantile hypotonia.

  2023cites this paper
• Congenital myopathies.

  2023cites this paper
• Mutations in proteins involved in E-C coupling and SOCE and congenital myopathies

  2022cites this paper
• Gene Panel Sequencing Identifies a Novel RYR1 p.Ser2300Pro Variant as Candidate for Malignant Hyperthermia with Multi-Minicore Myopathy

  2022cites this paper
• Expanding the clinical-pathological and genetic spectrum of RYR1-related congenital myopathies with cores and minicores: an Italian population study

  2022cites this paper
• Quantitative proteomic analysis of skeletal muscles from wild-type and transgenic mice carrying recessive Ryr1 mutations linked to congenital myopathies

  2022cites this paper
• RYR-1-Related Diseases International Research Workshop: From Mechanisms to Treatments Pittsburgh, PA, U.S.A., 21-22 July 2022

  2022cites this paper
• Ophthalmological Manifestations of Hereditary Myopathies

  2022cites this paper
• Improvement of muscle strength in a mouse model for congenital myopathy treated with HDAC and DNA methyltransferase inhibitors

  2021influential citation
• Variant landscape of the RYR1 gene based on whole genome sequencing of the Singaporean population

  2021cites this paper
• Diagnostic des myopathies congénitales

  2020cites this paper
• Update on Congenital Myopathies in Adulthood

  2020influential citation
• Understanding Symptoms in RYR1-Related Myopathies: A Mixed-Methods Analysis Based on Participants’ Experience

  2020cites this paper
• Mixed methods analysis of Health-Related Quality of Life in ambulant individuals affected with RYR1-related myopathies pre-post-N-acetylcysteine therapy

  2020cites this paper
• From Mice to Humans: An Overview of the Potentials and Limitations of Current Transgenic Mouse Models of Major Muscular Dystrophies and Congenital Myopathies

  2020cites this paper
• Marked Facial Weakness, Ptosis, and Hanging Jaw: A Case with RYR1 -Related Congenital Centronuclear Myopathy

  2020cites this paper
• Ryanodine receptor 1-related disorders: an historical perspective and proposal for a unified nomenclature

  2020cites this paper
• Structure and Function of the Human Ryanodine Receptors and Their Association with Myopathies—Present State, Challenges, and Perspectives

  2020cites this paper
• ‘Dusty core disease’ (DuCD): expanding morphological spectrum of RYR1 recessive myopathies

  2019cites this paper
• Miopatie congenite

  2019cites this paper
• Myopathies congénitales

  2019cites this paper
• Myopathology of Congenital Myopathies: Bridging the Old and the New.

  2019cites this paper
• Clinical and molecular-genetic profiles of patients with morphological indications of congenital multicore myopathy

  2019cites this paper
• Cored in the act: the use of models to understand core myopathies

  2019influential citation
• Therapeutic Aspects in Congenital Myopathies.

  2019cites this paper
• The histopathological spectrum of malignant hyperthermia and rhabdomyolysis due to RYR1 mutations

  2019cites this paper
• Muscle Involvement and Restricted Disorders

  2018cites this paper
• Compound heterozygous RYR1 mutations in a preterm with arthrogryposis multiplex congenita and prenatal CNS bleeding.

  2018cites this paper
• Ryanodine Receptor 1-Related Myopathies: Diagnostic and Therapeutic Approaches

  2018cites this paper
• Miopatías congénitas

  2018cites this paper
• Parental mosaicism in RYR1-related Central Core Disease.

  2018cites this paper
• Malignant Hyperthermia Susceptibility and Related Diseases.

  2018cites this paper
• Atypical periodic paralysis and myalgia

  2018cites this paper
• Congenital myopathies: disorders of excitation–contraction coupling and muscle contraction

  2018cites this paper
• Congenital myopathies: clinical phenotypes and new diagnostic tools

  2017cites this paper
• Novel Homozygous Missense Mutation in RYR1 Leads to Severe Congenital Ptosis, Ophthalmoplegia, and Scoliosis in the Absence of Myopathy

  2017cites this paper
• Diseases of the skeletal muscle.

  2017cites this paper
• Evolution of Vertebrate Ryanodine Receptors Family in Relation to Functional Divergence and Conservation.

  2017cites this paper
• RYR1 causing distal myopathy

  2017cites this paper
• FACULDADE DE MEDICINA DA UNIVERSIDADE DE COIMBRA MESTRADO INTEGRADO EM MEDICINA – TRABALHO FINAL

  2017cites this paper
• Current and future therapeutic approaches to the congenital myopathies.

  2017cites this paper
• RYR1-related rhabdomyolysis: A common but probably underdiagnosed manifestation of skeletal muscle ryanodine receptor dysfunction.

  2016cites this paper
• Functional characterization of orbicularis oculi and extraocular muscles

  2016cites this paper
• Ryanodine receptors under the magnifying lens: Insights and limitations of cryo-electron microscopy and X-ray crystallography studies.

  2016cites this paper
• Gene Discovery in Congenital Myopathy

  2016cites this paper
• A clinical and genetic study of the skeletal muscle channelopathies

  2016cites this paper
• 14 Perifeer-neurologische aandoeningen

  2016cites this paper
• Congenital myopathies: not only a paediatric topic.

  2016influential citation
• Congenital and Other Structural Myopathies

  2015cites this paper
• Ryanodine receptors: allosteric ion channel giants.

  2015cites this paper
• Compound RYR1 heterozygosity resulting in a complex phenotype of malignant hyperthermia susceptibility and a core myopathy.

  2015cites this paper
• DNA methylation dynamics in muscle development and disease

  2015cites this paper
• The molecular dysregulation of excitation contraction coupling in patients with congenital muscle disorders

  2015cites this paper
• Article Open Access

  2015cites this paper
• Characterization of excitation-contraction coupling components in human extraocular muscles.

  2015cites this paper
• Rhabdomyolysis: a genetic perspective

  2015cites this paper
• Diagnostic evaluation of rhabdomyolysis

  2015cites this paper
• Congenital (Structural) Myopathies

  2014cites this paper
• Approach to the diagnosis of congenital myopathies.

  2014cites this paper
• RYR1-related congenital myopathy with fatigable weakness, responding to pyridostigimine.

  2014cites this paper
• G.P.48

  2014cites this paper
• Core Myopathies, Malignant Hyperthermia Susceptibility, and Brody Disease

  2013cites this paper
• RYR 1 Mutations as a Cause of Ophthalmoplegia , Facial Weakness , andMalignant Hyperthermia

  2013cites this paper
• RyR1 Deficiency in Congenital Myopathies Disrupts Excitation–Contraction Coupling

  2013cites this paper
• Core myopathies and malignant hyperthermia susceptibility: a review

  2013cites this paper
• [Congenital myasthenic syndromes: difficulties in the diagnosis, course and prognosis, and therapy--The French National Congenital Myasthenic Syndrome Network experience].

  2013cites this paper
• Congenital myopathies--clinical features and frequency of individual subtypes diagnosed over a 5-year period in the United Kingdom.

  2013cites this paper
• RYR1 mutations as a cause of ophthalmoplegia, facial weakness, and malignant hyperthermia.

  2013cites this paper
• Structural Insights Into Disease Mutations of the Ryanodine Receptor

  2013cites this paper
• Identification of Mutations That Cause a Phenotypically and Genetically Heterogeneous Disorder, Muscular Dystrophy

  2013cites this paper
• Werlauff Methods to assess physical functioning , and their clinical applicability , in patients with spinal muscular atrophy and congenital myopathy

  2013cites this paper
• Congenital myopathies.

  2013cites this paper
• An Integrated Diagnosis Strategy for Congenital Myopathies

  2013cites this paper
• Severe congenital RYR1-associated myopathy

  2013cites this paper
• Hereditary Muscle Channelopathies

  2013cites this paper
• Congenital myopathy with focal loss of cross-striations revisited.

  2013cites this paper
• Interventions for Feeding and Nutrition in Cerebral Palsy

  2013cites this paper
• Genotype-phenotype correlations in recessive RYR1-related myopathies

  2013cites this paper
• Consensus Statement on Standard of Care for Congenital Myopathies

  2012cites this paper
• Genetics of neuromuscular disorders

  2012cites this paper
• Chapter 14 – Neonatal Hypotonia and Neuromuscular Disorders

  2012cites this paper
• Neurogenetics: A Guide for Clinicians

  2012cites this paper
• Recessive RYR1 mutations in a patient with severe congenital nemaline myopathy with ophthalomoplegia identified through massively parallel sequencing

  2012cites this paper
• Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

  2012cites this paper
• Malignant hyperthermia

  2012cites this paper
• An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia

  2012cites this paper
• Refined candidate region for arthrogryposis multiplex congenita (AMC) and inheritance of humpy back, splay leg and AMC-like phenotypes in pigs

  2012cites this paper
• Clinical and genetic findings in a large cohort of patients with ryanodine receptor 1 gene‐associated myopathies

  2012cites this paper
• Congenital Myopathies: An Update

  2012cites this paper
• Estudo de mutações no gene SEPN1 em pacientes brasileiros portadores de miopatias e distrofias musculares congênitas

  2011cites this paper