Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient

Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#60911...

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Autores principales: Malfatti, Edoardo, Cassandrini, Denise, Rubegni, Anna, Sartorelli, Filippo M., Villanova, Marcello
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Pacini Editore Srl 2020
Materias:
Case Report
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460734/
https://www.ncbi.nlm.nih.gov/pubmed/32904822
http://dx.doi.org/10.36185/2532-1900-013
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author Malfatti, Edoardo
Cassandrini, Denise
Rubegni, Anna
Sartorelli, Filippo M.
Villanova, Marcello
author_facet Malfatti, Edoardo
Cassandrini, Denise
Rubegni, Anna
Sartorelli, Filippo M.
Villanova, Marcello
author_sort Malfatti, Edoardo
collection PubMed
description Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the HNRNPDL gene.
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spelling pubmed-74607342020-09-04 Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient Malfatti, Edoardo Cassandrini, Denise Rubegni, Anna Sartorelli, Filippo M. Villanova, Marcello Acta Myol Case Report Limb girdle muscular dystrophy is a genetically inherited condition that primarily affects skeletal muscle leading to progressive, predominantly proximal muscle weakness at presentation. Autosomal dominant LGMD represent 10% of all LGMDs. HNRNPDL-related muscular dystrophy, LGMD1G/LGMD D3 (MIM#609115), is an extremely rare autosomal dominant adult onset myopathy described in a handful of families. Here we fully characterized the muscular and respiratory involvement of a 58 years old Italian woman presenting the previously reported pathogenic variant c.1132G > C p.(Asp378Asn) in the HNRNPDL gene. Pacini Editore Srl 2020-06-01 /pmc/articles/PMC7460734/ /pubmed/32904822 http://dx.doi.org/10.36185/2532-1900-013 Text en ©2020 Gaetano Conte Academy - Mediterranean Society of Myology, Naples, Italy https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en This is an open access article distributed in accordance with the CC-BY-NC-ND (Creative Commons Attribution-NonCommercial-NoDerivatives 4.0 International) license. The article can be used by giving appropriate credit and mentioning the license, but only for non-commercial purposes and only in the original version. For further information: https://creativecommons.org/licenses/by-nc-nd/4.0/deed.en
spellingShingle Case Report
Malfatti, Edoardo
Cassandrini, Denise
Rubegni, Anna
Sartorelli, Filippo M.
Villanova, Marcello
Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title_full Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title_fullStr Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title_full_unstemmed Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title_short Respiratory muscle involvement in HNRNPDL LGMD D3 muscular dystrophy: an extensive clinical description of the first Italian patient
title_sort respiratory muscle involvement in hnrnpdl lgmd d3 muscular dystrophy: an extensive clinical description of the first italian patient
topic Case Report
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7460734/
https://www.ncbi.nlm.nih.gov/pubmed/32904822
http://dx.doi.org/10.36185/2532-1900-013
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