OSORIO LOPES ABATH NETO

(Fonte: Lattes)
Índice h a partir de 2011
10
Lattes
ResearcherID
ORCID
Projetos de Pesquisa
Unidades Organizacionais
Instituto Central, Hospital das Clínicas, Faculdade de Medicina - Médico
LIM/45 - Laboratório de Fisiopatologia Neurocirúrgica, Hospital das Clínicas, Faculdade de Medicina

Filtros

Limpar filtros

Configurações

Colaboração internacional: Argentina ×

Resultados de Busca

Agora exibindo 1 - 1 de 1
  • article 31 Citação(ões) na Scopus
    Common and variable clinical, histological, and imaging findings of recessive RYR1-related centronuclear myopathy patients
    (2017) NETO, Osorio Abath; MORENO, Cristiane de Araujo Martins; MALFATTI, Edoardo; DONKERVOORT, Sandra; BOHM, Johann; GUIMARAES, Julio Brandao; FOLEY, A. Reghan; MOHASSEL, Payam; DASTGIR, Jahannaz; BHARUCHA-GOEBEL, Diana Xerxes; MONGES, Soledad; LUBIENIECKI, Fabiana; COLLINS, James; MEDNE, Livija; SANTI, Mariarita; YUM, Sabrina; BANWELL, Brenda; SALORT-CAMPANA, Emmanuelle; RENDU, John; FAURE, Julien; YIS, Uluc; EYMARD, Bruno; CHERAUD, Chrystel; SCHNEIDER, Raphael; THOMPSON, Julie; LORNAGE, Xaviere; MESROB, Lilia; LECHNER, Doris; BOLAND, Anne; DELEUZE, Jean-Francois; REED, Umbertina Conti; OLIVEIRA, Acary Souza Bulle; BIANCALANA, Valerie; ROMERO, Norma B.; BONNEMANN, Carsten G.; LAPORTE, Jocelyn; ZANOTELI, Edmar
    Mutations in RYR1 give rise to diverse skeletal muscle phenotypes, ranging from classical central core disease to susceptibility to malignant hyperthermia. Next-generation sequencing has recently shown that RYR1 is implicated in a wide variety of additional myopathies, including centronuclear myopathy. In this work, we established an international cohort of 21 patients from 18 families with autosomal recessive RYR1-related centronuclear myopathy, to better define the clinical, imaging, and histological spectrum of this disorder. Early onset of symptoms with hypotonia, motor developmental delay, proximal muscle weakness, and a stable course were common clinical features in the cohort. Ptosis and/or ophthalmoparesis, facial weakness, thoracic deformities, and spinal involvement were also frequent but variable. A common imaging pattern consisted of selective involvement of the vastus lateralis, adductor magnus, and biceps brachii in Comparison to adjacent muscles. In addition to a variable prominence of central nuclei, muscle biopsy from 20 patients showed type 1 fiber predominance and a wide range of intermyofibrillary architecture abnormalities. All families harbored compound heterozygous mutations, most commonly a truncating mutation combined with a missense mutation. This work expands the phenotypic characterization of patients with recessive RYR1-related centronuclear myopathy by highlighting common and variable clinical, histological, and imaging findings in these patients.