학술논문
Limb-girdle myopathy and mild intellectual disability: The expanding spectrum of TANGO2-related disease.
Document Type
Report
Author
Restrepo-Vera JL; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.; Muñoz-Cabello P; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.; Pérez-Rodon J; Department of Cardiology, Hospital Universitari Vall d'Hebrón, Universitat Autònoma de Barcelona, Vall d'Hebrón Institut de Recerca, CIBER-CV, Barcelona, Spain.; Rovira-Moreno E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.; Codina-Solà M; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Medicine Genetics Group, Vall d'Hebron Research Institute (VHIR), Universitat Autònoma de Barcelona (UAB), Barcelona 08035, Spain.; Llauradó A; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.; Salvadó M; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.; Sánchez-Tejerina D; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.; Sotoca J; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain.; Martínez-Sáez E; Department of Pathology, Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain.; García-Arumí E; Department of Clinical and Molecular Genetics, Hospital Vall d'Hebron, Universitat Autònoma de Barcelona, Barcelona 08035, Spain; Research Group on Neuromuscular and Mitochondrial Diseases, Vall d'Hebron Research Institute, Universitat Autònoma de Barcelona, Barcelona, Spain; Biomedical Network Research Centre on Rare Diseases (CIBERER), Instituto de Salud Carlos III, Madrid, Spain.; Juntas-Morales R; Department of Neurology, Neuromuscular Diseases Unit, European Reference Network on Rare Neuromuscular Diseases (ERN EURO-NMD), Hospital Universitari Vall d'Hebron, Universitat Autònoma de Barcelona, Passeig Vall d'Hebron, 119-135, Barcelona 08035, Spain. Electronic address: rjuntas@vhebron.net.
Source
Publisher: Pergamon Press Country of Publication: England NLM ID: 9111470 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1873-2364 (Electronic) Linking ISSN: 09608966 NLM ISO Abbreviation: Neuromuscul Disord Subsets: MEDLINE
Subject
Language
English
Abstract
TANGO2-related disease is an autosomal recessive multisystem disease associated with developmental delay and infancy-onset recurrent metabolic crises with early mortality. Several studies have reported dysfunction in endoplasmic reticulum-to-Golgi traffic and mitochondrial homoeostasis as the underlying pathophysiology. We report a 40-year-old woman affected by limb-girdle weakness and mild intellectual disability caused by the recurrent deletion of exons 3-9 in homozygosity in the TANGO2 gene. Physical examination revealed hyperlordosis, waddling gait, calf pseudohypertrophy, and Aquilian tendon retractions. Laboratory investigations revealed elevation of serum biomarkers suggestive of mitochondrial dysfunction together with hypothyroidism. At the age of 24, the patient suffered a metabolic crisis with severe rhabdomyolysis and malignant cardiac arrhythmia. After recovery, no metabolic or arrhythmic crisis has recurred. Muscle histology two years later revealed increased endomysial fibrosis and other myopathic changes. Our findings illustrate the mildest end of the phenotypic spectrum of TANGO2-related disease and reveal further aspects related to chronic muscle damage in this disorder.
(Copyright © 2023 Elsevier B.V. All rights reserved.)
(Copyright © 2023 Elsevier B.V. All rights reserved.)