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Dystrophinopathies

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Molecular diagnosis of dystrophinopathies in Morocco and report of six novel mutations.

Youssef El Kadiri, Yassir Selouani, Ilham Ratbi, Jaber Lyahyai, Abdelali Zrhidri, Maryem Sahli, Mouna Ouhenach, Imane Cherkaoui Jaouad, Abdelaziz Sefiani, Aziza Sbiti,

Dystrophinopathies are the most common genetic neuromuscular disorders during childhood, with an X-linked recessive inheritance pattern. Because of clinical and genetic heterogeneity of dystrophinopathies, genetic testing of dystrophin gene at Xp21.2 is constantly evolving. Multiplex Polymerase Chain Reaction (MPCR) is used in the first line to detect common exon deletions ... Read more >>

Clin. Chim. Acta (Clinica chimica acta; international journal of clinical chemistry)
[2020, 506:28-32]

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Identification of marker proteins of muscular dystrophy in the urine proteome from the mdx-4cv model of dystrophinopathy.

Stephen Gargan, Paul Dowling, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck,

Since the protein constituents of urine present a dynamic proteome that can reflect a variety of disease-related alterations in the body, the mass spectrometric survey of proteome-wide changes in urine promises new insights into pathogenic mechanisms. Urine can be investigated in a completely non-invasive way and provides valuable biomedical information ... Read more >>

Mol Omics (Molecular omics)
[2020, :]

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Cryptic exon activation causes dystrophinopathy in two Chinese families.

Ming Jin, Jin-Jing Li, Guo-Rong Xu, Ning Wang, Zhi-Qiang Wang,

The X-linked recessive degenerative disease dystrophinopathy results from variants in the DMD gene. Given the large size and complexity of the DMD gene, molecular diagnosis for all dystrophinopathies remains challenging. Here we identified two cryptic exon retention variants caused by intronic single nucleotide variants in dystrophinopathy patients using combined RNA- ... Read more >>

Eur. J. Hum. Genet. (European journal of human genetics : EJHG)
[2020, :]

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Proarrhythmic Manifestations of Neuromuscular Dystrophinopathies.

John N Catanzaro, Nicholas Chan, Haisam Ismail, Daniel Huddleston, Amgad N Makaryus, John N Makaryus,

Muscular dystrophy has been an elusive term ever since it was first described in the 19 century. Introduced in 1891 by Wilhem Heinrich Erb, muscular dystrophy has been classified as part of a larger group of genetically-determined, progressive degenerative neuromuscular disorders termed "dystrophinopathies." Cardiac arrhythmias may occur during the neurologic ... Read more >>

Cardiol Rev (Cardiology in review)
[2020, :]

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X-linked muscular dystrophy in a Labrador Retriever strain: phenotypic and molecular characterization.

Stéphane Blot, Barthélémy Inès, Inès Barthelemy, Nadège Calmels, Robert Weiss, Laurent Tiret, Adeline Vulin, Nicolas Wein, Cécile Peccate, Carole Drougard, Christophe Beroud, Nathalie Deburgrave, Jean-Laurent Thibaud, Catherine Escriou, Isabel Punzon, Luis Garcia, Jean-Claude Kaplan, Kevin Flanigan, France Leturcq,

<title>Abstract</title> <p> Background Canine models of Duchenne muscular dystrophy (DMD) are valuable to evaluate therapies because they faithfully reproduce the human disease. Several cases of dystrophinopathies have been described in canines, but the GRMD (Golden Retriever Muscular Dystrophy) model remains the one used in most preclinical studies. Methods ... Read more >>

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Proteomic profiling of fatty acid binding proteins in muscular dystrophy.

Paul Dowling, Stephen Gargan, Margit Zweyer, Dieter Swandulla, Kay Ohlendieck,

Introduction: Duchenne muscular dystrophy is a neuromuscular disorder, which is caused by abnormalities in the DMD gene that encodes the membrane cytoskeletal protein dystrophin. Besides progressive skeletal muscle wasting, dystrophinopathy also affects non-skeletal muscle tissues, including cells in the cardio-respiratory system, the central nervous system, the liver and the kidney.Areas ... Read more >>

Expert Rev Proteomics (Expert review of proteomics)
[2020, 17(2):137-148]

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The Dystrophinopathies.

Mathula Thangarajh,

PURPOSE OF REVIEW:The dystrophinopathies are among the most common neuromuscular conditions, and they include Duchenne and Becker muscular dystrophies. This article reviews the epidemiology, clinical manifestations, genetic cause, management, and new and emerging therapies for this condition. RECENT FINDINGS:New studies have highlighted how oral corticosteroids have changed the natural history ... Read more >>

Continuum (Minneap Minn) (Continuum (Minneapolis, Minn.))
[2019, 25(6):1619-1639]

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Value of muscle magnetic resonance imaging in the differential diagnosis of muscular dystrophies related to the dystrophin-glycoprotein complex.

Zhiying Xie, Zhihao Xie, Meng Yu, Yiming Zheng, Chengyue Sun, Yilin Liu, Chen Ling, Ying Zhu, Wei Zhang, Jiangxi Xiao, Zhaoxia Wang, Yun Yuan,

BACKGROUND:Dystrophin-glycoprotein complex (DGC)-related muscular dystrophies may present similar clinical and pathological features as well as undetectable mutations thus being sometimes difficult to distinguish. We investigated the value of muscle magnetic resonance imaging (MRI) in the differential diagnosis of DGC-related muscular dystrophies and reported the largest series of Chinese patients with ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):250]

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Cardiac Intervention Improves Heart Disease and Clinical Outcomes in Patients With Muscular Dystrophy in a Multidisciplinary Care Setting.

Anish Nikhanj, Haran Yogasundaram, Bailey Miskew Nichols, Janice Richman-Eisenstat, Cecile Phan, Jeffrey A Bakal, Zaeem A Siddiqi, Gavin Y Oudit,

Background Patients with muscular dystrophy (MD) represent a vulnerable patient population with no clearly defined care model in modern-day clinical practice to manage a high burden of heart disease and comorbidities. We demonstrate the effectiveness of cardiac interventions, namely the initiation and optimization of medical and device therapies, as part ... Read more >>

J Am Heart Assoc (Journal of the American Heart Association)
[2020, 9(2):e014004]

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Proteomic and cell biological profiling of the renal phenotype of the mdx-4cv mouse model of Duchenne muscular dystrophy.

Paul Dowling, Margit Zweyer, Maren Raucamp, Michael Henry, Paula Meleady, Dieter Swandulla, Kay Ohlendieck,

The X-linked inherited muscle wasting disease Duchenne muscular dystrophy, which is caused by primary abnormalities in the membrane cytoskeletal protein dystrophin, is a multi-system disorder. Highly progressive forms of dystrophinopathy are associated with a complex secondary pathophysiology, including renal dysfunction. It was therefore of interest to carry out a systematic ... Read more >>

Eur. J. Cell Biol. (European journal of cell biology)
[2020, 99(1):151059]

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Epidemiological study and genetic characterization of inherited muscle diseases in a northern Spanish region.

Inmaculada Pagola-Lorz, Esther Vicente, Berta Ibáñez, Laura Torné, Itsaso Elizalde-Beiras, Virginia Garcia-Solaesa, Fermín García, Josu Delfrade, Ivonne Jericó,

BACKGROUND:Inherited muscle diseases are a group of rare heterogeneous muscle conditions with great impact on quality of life, for which variable prevalence has previously been reported, probably due to case selection bias. The aim of this study is to estimate the overall and selective prevalence rates of inherited muscle diseases ... Read more >>

Orphanet J Rare Dis (Orphanet journal of rare diseases)
[2019, 14(1):276]

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The Genetic Landscape of Dystrophin Mutations in Italy: A Nationwide Study.

Marcella Neri, Rachele Rossi, Cecilia Trabanelli, Antonio Mauro, Rita Selvatici, Maria Sofia Falzarano, Noemi Spedicato, Alice Margutti, Paola Rimessi, Fernanda Fortunato, Marina Fabris, Francesca Gualandi, Giacomo Comi, Silvana Tedeschi, Manuela Seia, Chiara Fiorillo, Monica Traverso, Claudio Bruno, Emiliano Giardina, Maria Rosaria Piemontese, Giuseppe Merla, Milena Cau, Monica Marica, Carmela Scuderi, Eugenia Borgione, Alessandra Tessa, Guia Astrea, Filippo Maria Santorelli, Luciano Merlini, Marina Mora, Pia Bernasconi, Sara Gibertini, Valeria Sansone, Tiziana Mongini, Angela Berardinelli, Antonella Pini, Rocco Liguori, Massimiliano Filosto, Sonia Messina, Gianluca Vita, Antonio Toscano, Giuseppe Vita, Marika Pane, Serenella Servidei, Elena Pegoraro, Luca Bello, Lorena Travaglini, Enrico Bertini, Adele D'Amico, Manuela Ergoli, Luisa Politano, Annalaura Torella, Vincenzo Nigro, Eugenio Mercuri, Alessandra Ferlini,

Dystrophinopathies are inherited diseases caused by mutations in the dystrophin (DMD) gene for which testing is mandatory for genetic diagnosis, reproductive choices and eligibility for personalized trials. We genotyped the DMD gene in our Italian cohort of 1902 patients (BMD n = 740, 39%; DMD n =1162, 61%) within a ... Read more >>

Front Genet (Frontiers in Genetics)
[2020, 11:131]

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Predominance of Dystrophinopathy Genotypes in Mexican Male Patients Presenting as Muscular Dystrophy with A Normal Multiplex Polymerase Chain Reaction DMD Gene Result: A Study Including Targeted Next-Generation Sequencing.

Miguel Angel Alcántara-Ortigoza, Miriam Erandi Reyna-Fabián, Ariadna González-Del Angel, Bernardette Estandia-Ortega, Cesárea Bermúdez-López, Gabriela Marisol Cruz-Miranda, Matilde Ruíz-García,

The complete mutational spectrum of dystrophinopathies and limb-girdle muscular dystrophy (LGMD) remains unknown in Mexican population. Seventy-two unrelated Mexican male patients (73% of pediatric age) with clinical suspicion of muscular dystrophy and no evidence of DMD gene deletion on multiplex polymerase chain reaction (mPCR) analysis were analyzed by multiplex ligation-dependent ... Read more >>

Genes (Basel) (Genes)
[2019, 10(11):]

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Exon skipping induced by nonsense/frameshift mutations in DMD gene results in Becker muscular dystrophy.

Mariko Okubo, Satoru Noguchi, Shinichiro Hayashi, Harumasa Nakamura, Hirofumi Komaki, Masafumi Matsuo, Ichizo Nishino,

Duchenne muscular dystrophy (DMD) is caused by a nonsense or frameshift mutation in the DMD gene, while its milder form, Becker muscular dystrophy (BMD) is caused by an in-frame deletion/duplication or a missense mutation. Interestingly, however, some patients with a nonsense mutation exhibit BMD phenotype, which is mostly attributed to ... Read more >>

Hum. Genet. (Human genetics)
[2020, 139(2):247-255]

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Relationships between DMD mutations and neurodevelopment in dystrophinopathy.

Mathula Thangarajh, Jos Hendriksen, Michael P McDermott, William Martens, Kimberly A Hart, Robert C Griggs, ,

OBJECTIVE:We performed a prospective, cross-sectional analysis of neurodevelopmental concerns and psychosocial adjustment in relation to DMD mutations in young steroid-naive boys with dystrophinopathy. METHODS:We evaluated 196 steroid-naive boys with dystrophinopathy who were enrolled in the Finding the Optimal Regimen for Duchenne Muscular Dystrophy trial. The neurodevelopmental concerns and psychosocial adjustment ... Read more >>

Neurology (Neurology)
[2019, 93(17):e1597-e1604]

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Identification of two novel insertion abnormal transcripts in two Chinese families affected with Dystrophinopathy.

Ying Xu, Tingting Song, Yu Li, Fenfen Guo, Xin Jin, Lu Cheng, Jiao Zheng, Chunyan Li, Yingqi Zhang, Biliang Chen, Jianfang Zhang,

BACKGROUND:Duchenne muscular dystrophy (DMD) is an X-linked recessive inheritance muscle dystrophy disease, associated with pathogenic variants in the DMD gene. MLPA, DHPLC and DMD sequence studies fail to found the causative alteration in two cases. This study intends to evaluate the disease-causing mutations and explains the correlation genotype-phenotype. METHODS:The mRNA ... Read more >>

J. Clin. Lab. Anal. (Journal of clinical laboratory analysis)
[2019, :e23142]

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X-chromosome inactivation pattern of amniocytes predicts the risk of dystrophinopathy in fetal carriers of DMD mutations.

Wen-Bin He, Juan Du, Ping-Yuan Xie, Shuang Zhou, Ya-Xin Zhang, Guang-Xiu Lu, Ge Lin, Wen Li, Yue-Qiu Tan,

OBJECTIVE:To predict the risk of dystrophinopathy in fetal carriers of dystrophin gene (DMD) mutations. METHODS:Twenty-three pregnant women, with a total of 25 female fetuses carrying DMD mutations, were recruited. Among them, 13 pregnant women who participated in this study were only used to analyse the incidence of induced abortion after ... Read more >>

Prenat. Diagn. (Prenatal diagnosis)
[2019, 39(8):603-608]

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Abnormal liver function tests associated with severe rhabdomyolysis.

Andy Kh Lim,

Rhabdomyolysis is a syndrome of skeletal muscle injury with release of cellular constituents such as potassium, phosphate, urate and intracellular proteins such as myoglobin into the circulation, which may cause complications including acute kidney injury, electrolyte disturbance and cardiac instability. Abnormal liver function tests are frequently observed in cases of ... Read more >>

World J. Gastroenterol. (World journal of gastroenterology)
[2020, 26(10):1020-1028]

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Functional performance and muscular strength in symptomatic female carriers of Duchenne muscular dystrophy.

Thiago Henrique da Silva, Isabela Pessa Anequini, Francis Meire Fávero, Mariana Callil Voos, Acary Souza Bulle Oliveira, Juliana Aparecida Rhein Telles, Fátima Aparecida Caromano,

OBJECTIVE:Duchenne muscular dystrophy (DMD) usually affects men. However, women are also affected in rare instances. Approximately 8% of female DMD carriers have muscle weakness and cardiomyopathy. The early identification of functional and motor impairments can support clinical decision making. To investigate the motor and functional impairments of 10 female patients ... Read more >>

Arq Neuropsiquiatr (Arquivos de neuro-psiquiatria)
[2020, :]

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Importance of muscle biopsy to establish pathogenicity of DMD missense and splice variants.

Hannah F Jones, Samantha J Bryen, Leigh B Waddell, Adam Bournazos, Mark Davis, Michelle A Farrar, Catriona A McLean, David R Mowat, Hugo Sampaio, Ian R Woodcock, Monique M Ryan, Kristi J Jones, Sandra T Cooper,

A precise genetic diagnosis of a dystrophinopathy has far-reaching implications for affected boys and their families. We present three boys with DMD single nucleotide variants associated with Becker muscular dystrophy presenting with myalgia, reduced exercise capacity, neurodevelopmental symptoms and elevated creatine kinase. The DMD variants were difficult to classify: AIII:1 ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2019, 29(12):913-919]

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DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury.

Tatyana A Meyers, Jackie A Heitzman, DeWayne Townsend,

Duchenne muscular dystrophy (DMD) is a devastating neuromuscular disease that causes progressive muscle wasting and cardiomyopathy. This X-linked disease results from the mutations of the DMD allele on the X-chromosome resulting in the loss of expression of the protein dystrophin. Dystrophin loss causes cellular dysfunction that drives the loss of ... Read more >>

Hum. Mol. Genet. (Human molecular genetics)
[2020, :]

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Mutational spectrum of dystrophinopathies in Singapore: Insights for genetic diagnosis and precision therapy.

Swati Tomar, Vikaesh Moorthy, Raman Sethi, Josiah Chai, Poh Sim Low, Stacey Tay Kiat Hong, Poh San Lai,

Duchenne and Becker muscular dystrophies (DMD/BMD) are X-linked recessive disorders caused by mutations in the DMD gene. Emerging therapies targeting patients with specific mutations are now becoming a reality for many of these patients. Precise molecular diagnosis is essential to facilitate the identification of possible new treatments for patients in ... Read more >>

Am J Med Genet C Semin Med Genet (American journal of medical genetics. Part C, Seminars in medical genetics)
[2019, 181(2):230-244]

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Mutation spectrum of 260 dystrophinopathy patients from Turkey and important highlights for genetic counseling.

G Toksoy, H Durmus, A Aghayev, G Bagirova, B Sevinc Rustemoglu, S Basaran, S Avci, B Karaman, Y Parman, U Altunoglu, Z Yapici, P Tekturk, F Deymeer, H Topaloglu, H Kayserili, P Oflazer-Serdaroglu, Z O Uyguner,

We genetically evaluated 260 dystrophinopathy patients from Turkey. Karyotyping as an initial test in female patients, followed stepwise by multiplex ligation-dependent probe amplification and by targeted next-generation sequencing of DMD revealed definitive genetic diagnoses in 214 patients (82%), with gross deletions/duplications in 153 (59%), pathogenic sequence variants in 60 (23%), ... Read more >>

Neuromuscul. Disord. (Neuromuscular disorders : NMD)
[2019, 29(8):601-613]

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Emerging proteomic biomarkers of X-linked muscular dystrophy.

Paul Dowling, Sandra Murphy, Margit Zweyer, Maren Raucamp, Dieter Swandulla, Kay Ohlendieck,

Introduction: Progressive skeletal muscle wasting is the manifesting symptom of Duchenne muscular dystrophy, an X-linked inherited disorder triggered by primary abnormalities in the DMD gene. The almost complete loss of dystrophin isoform Dp427 causes a multi-system pathology that features in addition to skeletal muscle weakness also late-onset cardio-respiratory deficiencies, impaired ... Read more >>

Expert Rev. Mol. Diagn. (Expert review of molecular diagnostics)
[2019, 19(8):739-755]

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Genotypes and Phenotypes of DMD Small Mutations in Chinese Patients With Dystrophinopathies.

Liang Wang, Min Xu, Huan Li, Ruojie He, Jinfu Lin, Cheng Zhang, Yuling Zhu,

Dystrophinopathies are a group of neuromuscular disorders resulting from mutations in DMD, including Duchenne muscular dystrophy (DMD), intermediate muscular dystrophy (IMD), and Becker muscular dystrophy (BMD). Herein, we present the characteristics of small mutations in Chinese patients with dystrophinopathies, and explore genotype-phenotype correlations. In our cohort, 115 patients with small ... Read more >>

Front Genet (Frontiers in Genetics)
[2019, 10:114]

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