Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Sarcoglycanopathies display selective muscle vulnerability with characteristic gradients of fat replacement. Scapular girdle muscles are affected early in the disease course. Intramuscular fat correlates with functional impairment and disease duration, supporting its use as a surrogate endpoint in clinical trials. Age at onset emerges as a critical prognostic factor.

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Publication Details

Journal
Annals of Clinical and Translational Neurology
Published
2025-12-31
DOI
https://doi.org/10.1002/acn3.70303
Primary Topic
Glycosylation and Glycoproteins Research
Type
article
Field-Weighted Citation Impact
0.00

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article

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Michela Guglieri, Volker Straub, Soledad Monges, Sara Bortolani et al.
Annals of Clinical and Translational Neurology
Glycosylation and Glycoproteins Research
article

Whole‐Body Pattern of Muscle Degeneration and Progression in Sarcoglycanopathies

Michela Guglieri, Volker Straub, Soledad Monges, Sara Bortolani, Giacomo P. Comi, Marco Moscatelli, A. Pichiecchio, Laura Costa‐Comellas, Eleonora Torchia, David Gómez‐Andrés, Nicoline Løkken, R. Carlier, Jorge Alonso‐Pérez, Jorge Díaz‐Jara, N. Voermans, Ángel Sánchez‐Montáñez, Simone Thiele, Giorgio Tasca, Angela Lucia Berardinelli, Jordi Díaz‐Manera, L. Maggi, D. Vlodavets, Gabriela S. Urcuyo, Jorge Bevilacqua, Francina Munell, Susana Quijano‐Roy, Enzo Ricci, Kristl G. Claeys, Lea Leonardis, Montse Olivé, Adele D‘Amico, Chiara Panicucci, Chiara Marini‐Bettolo, Mauro Monforte, John Vissing, Penélope Romero‐Duque, Elena Pegoraro, Claudio Bruno, José Miguel Escudero‐Fernández, Maggie C. Walter
article en

Abstract

Sarcoglycanopathies display selective muscle vulnerability with characteristic gradients of fat replacement. Scapular girdle muscles are affected early in the disease course. Intramuscular fat correlates with functional impairment and disease duration, supporting its use as a surrogate endpoint in clinical trials. Age at onset emerges as a critical prognostic factor.

Annals of Clinical and Translational Neurology
Università Cattolica del Sacro Cuore (IT), Hebron University (PS), Universitat Autònoma de Barcelona (ES), University of Copenhagen (DK), University of Padua (IT), Radboud University Nijmegen (NL), University of Ljubljana (SI), Inserm (FR), University of Milan (IT), Université de Versailles Saint-Quentin-en-Yvelines (FR), University of Pavia (IT), Garrahan Hospital (AR), Ljubljana University Medical Centre (SI), Istituto Giannina Gaslini (IT), Hospital de Sant Pau (ES), Agostino Gemelli University Polyclinic (IT), Copenhagen University Hospital (DK), Foundation Center (US), Rigshospitalet (DK), Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico (IT), Pirogov Russian National Research Medical University (RU), Hospital Universitario Nuestra Señora de Candelaria (ES), Fondazione Istituto Neurologico Nazionale Casimiro Mondino (IT), Assistance Publique – Hôpitaux de Paris (FR), Vall d'Hebron Institut de Recerca (ES), Urology Foundation (GB), Centre for Biomedical Network Research on Rare Diseases (ES), Bambino Gesù Children's Hospital (IT), Vall d'Hebron Hospital Universitari (ES), Hospital Clínico de la Universidad de Chile (CL), Friedrich Baur Stiftung (DE), NIHR Newcastle Biomedical Research Centre (GB), Hôpital Raymond-Poincaré (FR), Fundación Canaria de Investigación Sanitaria (ES), Clínica Dávila (CL), Ferrari (Italy) (IT), Fondazione IRCCS Istituto Neurologico Carlo Besta (IT), Ludwig-Maximilians-Universität München (DE), University of Genoa (IT), KU Leuven (BE)
Università degli Studi di Milano, National Institute for Health and Care Research, Newcastle University, Institut National de la Santé et de la Recherche Médicale, Radboud Universiteit, Università degli Studi di Padova, KU Leuven, Università degli Studi di Pavia, Rigshospitalet, Università Cattolica del Sacro Cuore, Universidad de Chile, Université Paris-Saclay, Univerza v Ljubljani, Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico, Assistance publique-Hôpitaux de Paris, Fundació Institut de Recerca Hospital Universitari Vall d’Hebron, Pirogov Russian National Research Medical University, Université de Versailles Saint-Quentin-en-Yvelines, Comisión Nacional de Investigación Científica y Tecnológica, NIHR Newcastle Biomedical Research Centre
Openalex Percentile: Top 35%
Glycosylation and Glycoproteins Research
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