Genomes and Genes
- 80th ENMC International Workshop on Multi-Minicore Disease: 1st International MmD Workshop. 12-13th May, 2000, Soestduinen, The NetherlandsAna Ferreiro
INSERM U523 Institut de Myologie, Batiment Babinski, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75013 Paris, France
Neuromuscul Disord 12:60-8. 2002
- 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 geneAna Ferreiro
INSERM U523, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris, France
Ann Neurol 51:750-9. 2002..This subgroup of families linked to 19q13 represents the first variant of central core disease with genetically proven recessive inheritance and transient presentation as multi-minicore disease...
- 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 myopathiesAna Ferreiro
INSERM U523, Institut de Myologie, Institut Fédératif de Recherche 14 Coeur, Muscle et Vaisseaux, Paris, France
Am J Hum Genet 71:739-49. 2002..The present study represents the first identification of a gene responsible for classical MmD, demonstrates its genetic heterogeneity, and reassesses the nosological boundaries between MmD and RSMD...
- Desmin-related myopathy with Mallory body-like inclusions is caused by mutations of the selenoprotein N geneAna Ferreiro
Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Paris, France
Ann Neurol 55:676-86. 2004..These findings substantiate the molecular heterogeneity of DRM, expand the morphological spectrum of SEPN-RM, and implicate a necessary reassessment of the nosological boundaries in early-onset myopathies...
- Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathiesMuriel Herasse
INSERM U582, Institut de Myologie, Paris, France
J Neuropathol Exp Neurol 66:57-65. 2007....
- Early onset collagen VI myopathies: Genetic and clinical correlationsLaura Brinas
INSERM, U582, Paris, France
Ann Neurol 68:511-20. 2010..We extensively characterized, at the clinical, cellular, and molecular levels, 49 patients with onset in the first 2 years of life to investigate genotype-phenotype correlations...
- Rigid spine syndrome revealing late-onset Pompe diseasePascal Laforet
Centre de Référence de Pathologie Neuromusculaire Paris Est, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, Assistance Publique Hopitaux de Paris, Paris, France
Neuromuscul Disord 20:128-30. 2010....
- Selenoproteins and protection against oxidative stress: selenoprotein N as a novel player at the crossroads of redox signaling and calcium homeostasisSandrine Arbogast
INSERM U787, Institut de Myologie, Paris, France
Antioxid Redox Signal 12:893-904. 2010....
- C-terminal titin deletions cause a novel early-onset myopathy with fatal cardiomyopathyVirginie Carmignac
Institut National de la Sante et de la Recherche Médicale U582, Institut de Myologie, Groupe Hospitalier Pitie Salpetriere, France
Ann Neurol 61:340-51. 2007..Our aim was to delineate the phenotype and determine the genetic defects in two consanguineous families with an early-onset, recessive muscle and cardiac disorder...
- A single homozygous point mutation in a 3'untranslated region motif of selenoprotein N mRNA causes SEPN1-related myopathyValérie Allamand
Institut National de la Sante et de la Recherche Medicale, U582, Institut de Myologie, IFR 14, Groupe Hospitalier Pitie Salpetriere, Paris, France
EMBO Rep 7:450-4. 2006..The identification of this mutation affecting a conserved base in the SECIS functional motif thereby reveals the structural basis for a novel pathological mechanism leading to SEPN1-related myopathy...
- Mutations in COL6A3 cause severe and mild phenotypes of Ullrich congenital muscular dystrophyErcan Demir
INSERM U 523, Groupe Hospitalier Pitie Salpetriere, 47 Boulevard de l Hopital, 75651 Paris Cedex 13, France
Am J Hum Genet 70:1446-58. 2002..Mutations in COL6A3 are described in UCMD for the first time and illustrate the wide spectrum of phenotypes which can be caused by collagen VI deficiency...
- Oxidative stress in SEPN1-related myopathy: from pathophysiology to treatmentSandrine Arbogast
INSERM Institut National de la Santé et de la Recherche Médicale, U582, Institut de Myologie, Paris, France
Ann Neurol 65:677-86. 2009..Our objective was to clarify the role of SelN and the pathophysiology of SEPN1-RM to identify therapeutic targets...
- Interactions with titin and myomesin target obscurin and obscurin-like 1 to the M-band: implications for hereditary myopathiesAtsushi Fukuzawa
King s College London, The Randall Division for Cell and Molecular Biophysics, and Cardiovascular Division, New Hunt s House, London, UK
J Cell Sci 121:1841-51. 2008....
- Null mutations causing depletion of the type 1 ryanodine receptor (RYR1) are commonly associated with recessive structural congenital myopathies with coresNicole Monnier
Laboratoire de Biochimie et Génétique Moléculaire and Centre de Référence des Maladies Neuro Musculaires, CHU Grenoble, Grenoble, France
Hum Mutat 29:670-8. 2008..Our study also indicated that presence of a second mutation must be investigated in sporadic cases or in dominant cases presenting with a familial clinical variability...
- The phenotype and long-term follow-up in 11 patients with juvenile selenoprotein N1-related myopathyUlrike Schara
Department of Pediatric Neurology, University of Essen, Germany
Eur J Paediatr Neurol 12:224-30. 2008..Major complications were early respiratory failure, impaired increase in weight and orthopedic problems. There seems to be no correlation between skeletal muscle weakness and respiratory failure...
- A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegiaNicole Monnier
Laboratoire de Biochimie de l ADN EA 2943, CHU Grenoble, France
Hum Mol Genet 12:1171-8. 2003..This first report of an out-of-frame mutation that affects the amount of RYR1 raised the question of the amount of RYR1 needed for skeletal muscle function in humans...
- Myofibrillar myopathy with congenital cataract and skeletal anomalies without mutations in the desmin, alphaB-crystallin, myotilin, LMNA or SEPN1 genesAnna Kostera-Pruszczyk
Medical University of Warsaw, Department of Neurology, Banacha 1a, 02 097, Warsaw, Poland
Neuromuscul Disord 16:759-62. 2006..Presented case expands the wide clinical spectrum of myofibrillar myopathies, reinforcing the need for further exploration of genetic causes for this group of disorders...
- Two central core disease (CCD) deletions in the C-terminal region of RYR1 alter muscle excitation-contraction (EC) coupling by distinct mechanismsAlla D Lyfenko
Department of Physiology and Pharmacology, University of Rochester, Rochester, New York 14642, USA
Hum Mutat 28:61-8. 2007..Val4927_Ile4928del deletion reduces Ca(2+) release by disrupting Ca(2+) gating and eliminating Ca(2+) permeation through the open channel...
- Functional properties of ryanodine receptors carrying three amino acid substitutions identified in patients affected by multi-minicore disease and central core disease, expressed in immortalized lymphocytesSylvie Ducreux
Department of Anaesthesia and Research, Basel University Hospital, 4031 Basel, Switzerland
Biochem J 395:259-66. 2006....
- 111th ENMC International Workshop on Multi-minicore Disease. 2nd International MmD Workshop, 9-11 November 2002, Naarden, The NetherlandsHeinz Jungbluth
Dubowitz Neuromuscular Centre, Imperial College, Hammersmith Hospital, Du Cane Road, London W12 0NN, UK
Neuromuscul Disord 14:754-66. 2004
- Selenoprotein N muscular dystrophy: differential diagnosis for early-onset limited mobility of the spineStefanie Sponholz
Department of Pediatric Neurology, Children s Hospital Technical University Dresden, Germany
J Child Neurol 21:316-20. 2006..Thus, neuromuscular diseases such as muscular dystrophy must be considered in all patients presenting with early spinal rigidity, and genetic determination is a possible way to determine the diagnosis...
- Multi-minicore myopathy: a clinical and histopathological study of 17 casesAleksandra Nadaj-Pakleza
Department of Neurology, Medical University of Warsaw, Banacha 1a, 02 097 Warsaw, Poland
Folia Neuropathol 45:56-65. 2007..We postulate that all muscle biopsies with abnormal fibre proportion or centrally located nuclei as the only pathology on LM need to undergo careful EM evaluation to identify possible underlying multi-minicore disease...
- Severe progressive form of congenital muscular dystrophy with calf pseudohypertrophy, macroglossia and respiratory insufficiencySusana Quijano-Roy
Service de Pediatrie, Rééducation et Réanimation Neurorespiratoire, Hopital Raymond Poincare, Garches, France
Neuromuscul Disord 12:466-75. 2002..The known loci for congenital muscular dystrophies were excluded in the only consanguineous case by linkage analysis. Clinical, immunohistochemical and genetic findings strongly suggest a distinct entity...
- SEPN1: associated with congenital fiber-type disproportion and insulin resistanceNigel F Clarke
Institute for Neuromuscular Research, Children s Hospital at Westmead, Discipline of Paediatrics and Child Health, University of Sydney, Sydney, Australia
Ann Neurol 59:546-52. 2006..Second, we investigated an association between SEPN1-related myopathy and insulin resistance...
- Macrophagic myofasciitis in childhood: a controversial entityEloy Rivas
Department of Pathology, Neuropathology Section, Hospital Universitario 12 de Octubre, Madrid, Spain
Pediatr Neurol 33:350-6. 2005..Despite the wide use of vaccines in childhood, macrophagic myofasciitis was rarely observed in children and its characteristic histologic pattern could not be correlated with a distinctive clinical syndrome...