title: Tubular aggregate myopathy with features of Stormorken disease due to a new STIM1 mutation.
abstract: STIM1 is a reticular Ca2+sensor composed of a luminal and a cytosolic domain. Missense mutations in the luminal domain have been associated with tubular aggregate myopathy (TAM), while cytosolic mutations can cause Stormorken syndrome, a multisystemic disease associating TAM with asplenia, thrombocytopenia, miosis, ichthyosis, short stature and dyslexia. Here we present the case of a 41-year-old female complaining of exercise intolerance. Clinical examination showed short stature, scoliosis, proximal muscle weakness with lower limb predominance, and ophthalmoplegia. Laboratory tests revealed hypocalcemia, mild anemia and elevated creatine kinase (CK) levels. Whole-body muscle magnetic resonance imaging (MRI) revealed asplenia. Muscle biopsy was consistent with TAM. STIM1 gene analysis disclosed the novel c.252T>A, p.D84E missense mutation which was shown to induce constitutive STIM1 clustering in a functional study. This study reports a novel STIM1 mutation located in the Ca2+-binding EF domain causing TAM with features of Stormorken syndrome.
authors.affiliation: Service de Neurologie, Hôpital de La Cavale Blanche, CHRU Brest, Boulevard Tanguy Prigent, 29609 Brest, France. Electronic address: jean-baptiste.noury@chu-brest.fr.
authors.forename: Jean-Baptiste
authors.initials: JB
authors.lastname: Noury
authors.affiliation: Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm, U964, CNRS, UMR7104, University of Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France.
authors.forename: Johann
authors.initials: J
authors.lastname: Böhm
authors.affiliation: Department of Translational Medicine and Neurogenetics, IGBMC (Institut de Génétique et de Biologie Moléculaire et Cellulaire), Inserm, U964, CNRS, UMR7104, University of Strasbourg, Collège de France, Chaire de Génétique Humaine, Illkirch, France.
authors.forename: Georges Arielle
authors.initials: GA
authors.lastname: Peche
authors.affiliation: Department of Neurology, Rouen University Hospital, France.
authors.forename: Lucie
authors.initials: L
authors.lastname: Guyant-Marechal
authors.affiliation: Department of Neurology, Rouen University Hospital, France.
authors.forename: Anne-Laure
authors.initials: AL
authors.lastname: Bedat-Millet
authors.affiliation: AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
authors.forename: Léa
authors.initials: L
authors.lastname: Chiche
authors.affiliation: AP-HP, Service d'Imagerie Médicale, Pôle Neuro-locomoteur, Hôpital R. Poincaré, Garches, Hôpitaux Universitaires Paris-Ile-de-France Ouest, France.
authors.forename: Robert-Yves
authors.initials: RY
authors.lastname: Carlier
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Edoardo
authors.initials: E
authors.lastname: Malfatti
authors.affiliation: Sorbonne Universités, UPMC Univ Paris 06, INSERM UMRS974, CNRS FRE3617, Center for Research in Myology, GH Pitié-Salpêtrière, 47 Boulevard de l'hôpital, 75013 Paris, France; Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Norma B
authors.initials: NB
authors.lastname: Romero
authors.affiliation: Centre de référence de Pathologie Neuromusculaire Paris-Est, Institut de Myologie, GHU Pitié-Salpêtrière, Assistance Publique-Hôpitaux de Paris, Paris, France.
authors.forename: Tanya
authors.initials: T
authors.lastname: Stojkovic
mesh_terms: D000328:Adult; D001791:Blood Platelet Disorders / Q000235:genetics*; D004410:Dyslexia / Q000235:genetics*; D004913:Erythrocytes, Abnormal; D005260:Female; D006801:Humans; D007057:Ichthyosis / Q000235:genetics*; D008881:Migraine Disorders / Q000235:genetics*; D015877:Miosis / Q000235:genetics*; D018763:Muscle Fatigue / Q000235:genetics; D020125:Mutation, Missense; D020914:Myopathies, Structural, Congenital / Q000235:genetics*; D009363:Neoplasm Proteins / Q000235:genetics*; D013154:Spleen / Q000002:abnormalities*; D000071737:Stromal Interaction Molecule 1 / Q000235:genetics*
chemical_list: D009363:Neoplasm Proteins; C103530:STIM1 protein, human; D000071737:Stromal Interaction Molecule 1
keywords: Asplenia; STIM1; Stormorken syndrome; Tubular aggregate myopathy