Results 1 to 10 of about 19,247 (225)

The lack of the Celf2a splicing factor converts a Duchenne genotype into a Becker phenotype [PDF]

Nature Communications, 2016
Muscular Dystrophy can be caused by mutations in the dystrophingene, causing the severe Duchenne form or the mild Becker form depending on if the transcript is in or out-of-frame.
J. Martone, F. Briganti, I. Legnini, M. Morlando, E. Picillo, O. Sthandier, L. Politano, I. Bozzoni   +7 more
doaj   +3 more sources

An update on Becker muscular dystrophy. [PDF]

Curr Opin Neurol, 2023
Purpose of review The purpose of this review is to summarise the recent developments in trial readiness, natural history studies, and interventional clinical trials for Becker muscular dystrophy (BMD). Recent findings As several treatment concepts have claimed to convert patients ...
Straub V, Guglieri M.
europepmc   +3 more sources

Brothers with Becker muscular dystrophy show discordance in skeletal muscle computed tomography findings: A case report [PDF]

SAGE Open Medical Case Reports
Becker muscular dystrophy is caused by DMD mutations and is characterized by progressive muscle atrophy. The wide variations observed in muscle atrophy progression in Becker muscular dystrophy are considered multifactorial, including differences in ...
Yoshinori Nambu, Taku Shirakawa, Kayo Osawa, Hisahide Nishio, Kandai Nozu, Masafumi Matsuo, Hiroyuki Awano   +6 more
doaj   +2 more sources

Facioscapulohumeral muscular dystrophy type 1 combined with becker muscular dystrophy: a family case report [PDF]

Frontiers in Genetics
Facioscapulohumeral muscular dystrophy type 1 (FSHD1) and Becker muscular dystrophy (BMD) are distinct disorders caused by different genetic variations and exhibiting different inheritance patterns.
Menglin Tan, Huiyi Huo, Jieming Feng, Chandi Wang, Suhua Jiang   +4 more
doaj   +2 more sources

Acute hepatotoxicity of intravenous amiodarone in a Becker muscular dystrophy patient with decompensated heart failing and ABCB4 gene mutation: as assessed for causality using the updated RUCAM [PDF]

Journal of Cardiothoracic Surgery
Background Cardiac dysfunction, including arrhythmias, may be one of the main clinical manifestations of Becker muscular dystrophy (BMD). Amiodarone is widely used to treat arrhythmia.
Hui Shi, Ruizhen Chen, Minghui Li, Junbo Ge   +3 more
doaj   +2 more sources

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy [PDF]

Revista Brasileira de Anestesiologia, 2018
Background and objectives Duchenne/Becker muscular dystrophy affects skeletal muscles and leads to progressive muscle weakness and risk of atypical anesthetic reactions following exposure to succinylcholine or halogenated agents.
Helga Cristina Almeida da Silva, Marcia Hiray, Mariz Vainzof, Beny Schmidt, Acary Souza Bulle Oliveira, José Luiz Gomes do Amaral   +5 more
doaj   +6 more sources

Clinical and genetic characterisation of dystrophin-deficient muscular dystrophy in a family of Miniature Poodle dogs [PDF]

, 2018
Four full-sibling intact male Miniature Poodles were evaluated at 4–19 months of age. One was clinically normal and three were affected. All affected dogs were reluctant to exercise and had generalised muscle atrophy, a stiff gait and a markedly elevated
A Aartsma-Rus, A McKenna, Alberta de Stefani, Anita Shea, AP Monaco, AV Winnard, BA Valentine, BF Smith, BJ Cooper, C Le Guiner, C Pichavant, CA Collins, CA Jenkins, CA Wetterman, Carlos E. Ambrósio, CT Caskey, DE Cole, DJ VanBelzen, Elsa Beltrán, EM Hoogerwaard, EM Hoogerwaard, EP Hoffman, F Daoud, G Anil, G Bulfield, G. Diane Shelton, GD Shelton, GD Shelton, GD Shelton, GD Shelton, GL Walmsley, H Li, JA Goldstein, JL Carpenter, JN Kornegay, JN Kornegay, JR Mendell, JW McGreevy, K Bushby, K Nakamura, KJ Livak, KJ Nowak, Ling T. Guo, Lluís Sánchez, Louise M. Burmeister, LT Guo, Luisa De Risio, M Koenig, N Klymiuk, N Winand, NJ Olby, NJ Sharp, PP Nghiem, S Atencia-Fernandez, S Pouwels, S Rozen, SJ Schatzberg, SJ Schatzberg, T Larcher, U Francke, V Dubowitz, V Ricotti, W El Nemer, WI Baltzer   +63 more
core   +14 more sources

A review of diagnosis of Duchenne and Becker muscular dystrophy [PDF]

Ķazaķstannyṇ Klinikalyķ Medicinasy, 2021
Duchenne muscular dystrophy and Becker muscular dystrophy are progressive serious neuromuscular disorders. We have reviewed contemporary data on diagnosis of DMD and BMD. Searches were carried out from 2010 to 2020. This article discusses clinical signs,
Dana Chunkayeva, Altynshash Jaxybayeva
doaj   +1 more source

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases

Orphanet Journal of Rare Diseases, 2022
There are scarce publications regarding the presentation and outcome of Becker muscular dystrophy in adulthood when idiopathic dilated cardiomyopathy is the initial disease manifestation.
Gaspar Del Rio-Pertuz, Cristina Morataya, Kanak Parmar, Sarah Dubay, Erwin Argueta-Sosa   +4 more
doaj   +1 more source

The inflammatory pathology of dysferlinopathy is distinct from calpainopathy, Becker muscular dystrophy, and inflammatory myopathies

Acta Neuropathologica Communications, 2022
The descriptions of muscle pathology in dysferlinopathy patients have classically included an inflammatory infiltrate that can mimic inflammatory myopathies.
Nicole Becker, Steven A. Moore, Karra A. Jones   +2 more
doaj   +1 more source