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HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes

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dc.contributor.author Berardo, Andrés
dc.contributor.author Lornage, Xavière
dc.contributor.author Johari, Mridul
dc.contributor.author Evangelista, Teresinha
dc.contributor.author Cejas, Claudia Patricia
dc.contributor.author Barroso, Fabio Adrián
dc.contributor.author Dubrovsky, Alberto
dc.contributor.author Bui, Mai Thao
dc.contributor.author Brochier, Guy
dc.contributor.author Saccoliti, María
dc.contributor.author Bohm, Johann
dc.contributor.author Udd, Bjarne
dc.contributor.author Laporte, Jocelyn
dc.contributor.author Romero, Norma Beatriz
dc.contributor.author Taratuto, Ana Lía
dc.date.accessioned 2019-10-15T14:56:40Z
dc.date.available 2019-10-15T14:56:40Z
dc.date.issued 2019-07-02
dc.identifier.citation Berardo A, Lornage X, Johari M, et al. HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes. Journal of Neurology. 2019;266 (10) 2524–2534 . doi:10.1007/s00415-019-09437-3 en_US
dc.identifier.uri https://doi.org/10.1007/s00415-019-09437-3
dc.description.abstract Autosomal dominant limb girdle muscular dystrophy D3 HNRNPDL-related is a rare dominant myopathy caused by mutations in HNRNPDL. Only three unrelated families have been described worldwide, a Brazilian and a Chinese carrying the mutation c.1132G>A p.(Asp378Asn), and one Uruguayan with the mutation c.1132G>C p. (Asp378His), both mutations occurring in the same codon. The present study enlarges the clinical, morphological and muscle MRI spectrum of AD-HNRNPDL-related myopathies demonstrating the significant particularities of the disease. We describe two new unrelated Argentinean families, carrying the previously reported c.1132G>C p.(Asp378His) HNRNPDL mutation. There was a wide phenotypic spectrum including oligo-symptomatic cases, pure limb girdle muscle involvement or distal lower limb muscle weakness. Scapular winging was the most common finding, observed in all patients. Muscle MRIs of the thigh, at different stages of the disease, showed particular involvement of adductor magnus and vastus besides a constant preservation of the rectus femoris and the adductor longus muscles, defining a novel MRI pattern. Muscle biopsy findings were characterized by the presence of numerous rimmed vacuoles, cytoplasmic bodies, and abundant autophagic material at the histochemistry and ultrastructural levels. HNRNPDL-related LGMD D3 results in a wide range of clinical phenotypes from the classic proximal form of LGMD to a more distal phenotype. Thigh MRI suggests a specific pattern. Codon 378 of HNRNPDL gene can be considered a mutation hotspot for HNRNPDL-related myopathy. Pathologically, the disease can be classified among the autophagic rimmed vacuolar myopathies as with the other multisystem proteinopathies. en_US
dc.language.iso eng en_US
dc.publisher Springer en_US
dc.rights info:eu-repo/semantics/openAccess
dc.rights.uri https://creativecommons.org/licenses/by/2.5/ar/
dc.subject Autophagy en_US
dc.subject Autofagia en_US
dc.subject Muscular Dystrophies en_US
dc.subject Distrofias Musculares en_US
dc.title HNRNPDL-related muscular dystrophy: expanding the clinical, morphological and MRI phenotypes en_US
dc.type info:eu-repo/semantics/publishedVersion
dc.type info:eu-repo/semantics/article en_US
dc.description.fil Fil:Berardo, Andrés.Valencia Positiva.Neuropsychiatry Center; Argentina
dc.description.fil Fil: Lornage, Xavière. Strasbourg University. INSERM. Department of Translational Medicine .Institut de Génétique Et de Biologie Moléculaire et Cellulaire; France.
dc.description.fil Fil: Johari, Mridul. University of Helsinki. Department of Medical Genetics; Finland; Folkhälsan Research Center; Finland.
dc.description.fil Fil: Evangelista, Teresinha. Sorbonne Université . Assistance Publique – Hôpitaux de Paris. Institut National de la Santé et de la Recherche Médicale. Centre de référence des Maladies Neuromusculaires Nord/Est ; France.
dc.description.fil Fil: Cejas, Claudia Patricia. Fleni. Departamento de Diagnóstico por Imágenes: Argentina.
dc.description.fil Fil: Barroso, Fabio Adrián. Fleni. Departamento de Neurología; Argentina.
dc.description.fil Fil: Dubrovsky, Alberto.Fundación Favaloro; Argentina.
dc.description.fil Fil: Bui, Mai Thao. Groupement Hospitalier Universitaire Pitié-Salpêtrière . Myology Institute, Morphology Unit; Francia.
dc.description.fil Fil: Brochier, Guy. Sorbonne Université. Assistance Publique – Hôpitaux de Paris. Institut National de la Santé et de la Recherche Médicale. Centre de Référence des Maladies Neuromusculaires Nord/Est; Francia. Groupement Hospitalier Universitaire Pitié-Salpêtrière. Myology Institute, Morphology Unit; Francia.
dc.description.fil Fil: Saccoliti, María. Neuropathology and Neuromuscular Diseases Laboratory; Argentina.
dc.description.fil Fil: Bohm, Johann. Strasbourg University. INSERM. Department of Translational Medicine .Institut de Génétique Et de Biologie Moléculaire et Cellulaire; France.
dc.description.fil Fil: Udd, Bjarne. Folkhälsan Research Center; Finland.Tampere University Neuromuscular Research Center; Finland. University Hospital; Finland.
dc.description.fil Fil: Laporte, Jocelyn.Strasbourg University. Institut National de la Santé et de la Recherche Médicale.. Department of Translational Medicine .Institut de Génétique et de Biologie Moléculaire et Cellulaire; France.
dc.description.fil Fil: Romero, Norma Beatriz.Groupement Hospitalier Universitaire Pitié-Salpêtrière . Myology Institute, Morphology Unit France.
dc.description.fil Fil: Taratuto, Ana Lia. Fleni. Departamento de Neuropatología y Biología Molecular; Argentina.
dc.relation.ispartofVOLUME 266
dc.relation.ispartofNUMBER 10
dc.relation.ispartofPAGINATION 2524–2534
dc.relation.ispartofCOUNTRY Alemania
dc.relation.ispartofCITY Berlin
dc.relation.ispartofTITLE Journal of Neurology
dc.relation.ispartofISSN 1432-1459
dc.type.snrd info:ar-repo/semantics/artículo es_ES


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