Cargando…

Early Progressive Dilated Cardiomyopathy in a Family with Becker Muscular Dystrophy Related to a Novel Frameshift Mutation in the Dystrophin Gene Exon 27

We report a family in which two male siblings with Becker muscular dystrophy (BMD) developed severe dilated cardiomyopathy (DCM) and progressive heart failure (HF) at age 11; one died at age 14 years while awaiting heart transplant and the other underwent left ventricular assist device (LVAD) implan...

Descripción completa

Detalles Bibliográficos
Autores principales:	Tsuda, Takeshi, Fitzgerald, Kristi, Scavena, Mena, Gidding, Samuel, Cox, Mary O., Marks, Harold, Flanigan, Kevin M., Moore, Steven A.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2014
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4374993/ https://www.ncbi.nlm.nih.gov/pubmed/25537791 http://dx.doi.org/10.1038/jhg.2014.112

Ejemplares similares

The X‐linked Becker muscular dystrophy (bmx) mouse models Becker muscular dystrophy via deletion of murine dystrophin exons 45–47
por: Heier, Christopher R., et al.
Publicado: (2023)

Deletion of exon 26 of the dystrophin gene is associated with a mild Becker muscular dystrophy phenotype
por: Witting, Nanna, et al.
Publicado: (2011)

Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy
por: Okubo, Mariko, et al.
Publicado: (2020)

Dystrophin (DMD) Missense Variant in Cats with Becker-Type Muscular Dystrophy
por: Hilton, Stephanie, et al.
Publicado: (2023)

Exonization of an Intronic LINE-1 Element Causing Becker Muscular Dystrophy as a Novel Mutational Mechanism in Dystrophin Gene
por: Gonçalves, Ana, et al.
Publicado: (2017)

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene
por: Zimowski, Janusz G., et al.
Publicado: (2017)

Vamorolone improves Becker muscular dystrophy and increases dystrophin protein in bmx model mice
por: McCormack, Nikki M., et al.
Publicado: (2023)

Becker muscular dystrophy with dilated cardiomyopathy: A case report
por: Chen, Yongliang, et al.
Publicado: (2021)

Becker muscular dystrophy caused by exon 2-truncating mutation of DMD
por: Ikeda, Tetsuhiko, et al.
Publicado: (2019)

Dual exon skipping in myostatin and dystrophin for Duchenne muscular dystrophy
por: Kemaladewi, Dwi U, et al.
Publicado: (2011)

An update on Becker muscular dystrophy
por: Straub, Volker, et al.
Publicado: (2023)

Identification of Biallelic dystrophin gene variants during maternal carrier testing for Becker muscular dystrophy and review of the DMD exon 49–51 deletion phenotype
por: Ulm, Elizabeth A., et al.
Publicado: (2022)

Genetic Analysis of Dystrophin Gene for Affected Male and Female Carriers with Duchenne/Becker Muscular Dystrophy in Korea
por: Lee, Bo Lyun, et al.
Publicado: (2012)

Uncovering the true features of dystrophin gene rearrangement and improving the molecular diagnosis of Duchenne and Becker muscular dystrophies
por: Ling, Chao, et al.
Publicado: (2023)

Exonic rearrangements in DMD in Chinese Han individuals affected with Duchenne and Becker muscular dystrophies
por: Ling, Chao, et al.
Publicado: (2019)

Causes of clinical variability in Duchenne and Becker muscular dystrophies and implications for exon skipping therapies
por: Hoffman, Eric P.
Publicado: (2020)

Exonization of a deep intronic long interspersed nuclear element in Becker muscular dystrophy
por: Xie, Zhiying, et al.
Publicado: (2022)

A case report: Becker muscular dystrophy presenting with epilepsy and dysgnosia induced by duplication mutation of Dystrophin gene
por: Miao, Jing, et al.
Publicado: (2016)

Pathological evaluation of rats carrying in-frame mutations in the dystrophin gene: a new model of Becker muscular dystrophy
por: Teramoto, Naomi, et al.
Publicado: (2020)

Comparative proteomic analyses of Duchenne muscular dystrophy and Becker muscular dystrophy muscles: changes contributing to preserve muscle function in Becker muscular dystrophy patients
por: Capitanio, Daniele, et al.
Publicado: (2020)

Correlation of Utrophin Levels with the Dystrophin Protein Complex and Muscle Fibre Regeneration in Duchenne and Becker Muscular Dystrophy Muscle Biopsies
por: Janghra, Narinder, et al.
Publicado: (2016)

Evaluation of exon-skipping strategies for Duchenne muscular dystrophy utilizing dystrophin-deficient zebrafish
por: Berger, Joachim, et al.
Publicado: (2011)

A Dystrophin Exon-52 Deleted Miniature Pig Model of Duchenne Muscular Dystrophy and Evaluation of Exon Skipping
por: Echigoya, Yusuke, et al.
Publicado: (2021)

Epilepsy Characteristics in Duchenne and Becker Muscular Dystrophies
por: Ramani, Praveen Kumar, et al.
Publicado: (2023)

Brain natriuretic peptide is not predictive of dilated cardiomyopathy in Becker and Duchenne muscular dystrophy patients and carriers
por: Schade van Westrum, Steven, et al.
Publicado: (2013)

Dilated cardiomyopathy as the initial presentation of Becker muscular dystrophy: a systematic review of published cases
por: Del Rio-Pertuz, Gaspar, et al.
Publicado: (2022)

Low dystrophin variability between muscles and stable expression over time in Becker muscular dystrophy using capillary Western immunoassay
por: Koeks, Z., et al.
Publicado: (2021)

Longitudinal Study of Three microRNAs in Duchenne Muscular Dystrophy and Becker Muscular Dystrophy
por: Trifunov, Selena, et al.
Publicado: (2020)

Dilated cardiomyopathy in a patient with newly diagnosed Becker muscular dystrophy: more than meets the eye
por: Houdmount, Marie, et al.
Publicado: (2022)

Dystrophin-deficient muscular dystrophy in a Toy Poodle with a single base pair insertion in exon 45 of the Duchenne muscular dystrophy gene
por: SAKAI, Kosei, et al.
Publicado: (2022)

Functional muscle ischemia in Duchenne and Becker muscular dystrophy
por: Thomas, Gail D.
Publicado: (2013)

Resting Energy Expenditure in Adults with Becker’s Muscular Dystrophy
por: Jacques, Matthew F., et al.
Publicado: (2017)

Duchenne and Becker muscular dystrophy in adolescents: current perspectives
por: Andrews, Jennifer G, et al.
Publicado: (2018)

Protein Interaction Mapping related to Becker Muscular Dystrophy
por: PEYVANDI, Ali Azghar, et al.
Publicado: (2019)

Current and emerging therapies in Becker muscular dystrophy (BMD)
por: ANGELINI, CORRADO, et al.
Publicado: (2019)

First psychotic episode in an adult with Becker muscular dystrophy
por: Santos, Cátia Fernandes
Publicado: (2019)

Urinary incontinence in men with Duchenne and Becker muscular dystrophy
por: Morse, Christopher I., et al.
Publicado: (2020)

Multi‐parametric MR in Becker muscular dystrophy patients
por: Hooijmans, Melissa T., et al.
Publicado: (2020)

The neurocognitive profile of adults with Becker muscular dystrophy in the Netherlands
por: Koeks, Zaıda, et al.
Publicado: (2022)

Atypical reaction to anesthesia in Duchenne/Becker muscular dystrophy
por: Silva, Helga Cristina Almeida da, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_lar4juqltm94ln04jlrf742nd0