Exon 46-48 Deletion of DMD Gene - A Boon in Beckers Muscular Dystrophy (original) (raw)

A rare subclinical or mild type of Becker muscular dystrophy caused by a single exon 48 deletion of the dystrophin gene

Jacek Pilch

Journal of Applied Genetics, 2017

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Becker muscular dystrophy due to an inversion of exons 23 and 24 of the DMD gene

Diane Dunn

Muscle & Nerve, 2011

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Becker muscular dystrophy with marked divergence between clinical and molecular genetic findings: case series

Joachim Weis

Swiss medical weekly, 2006

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Early-progressive dilated cardiomyopathy in a family with Becker muscular dystrophy related to a novel frameshift mutation in the dystrophin gene exon 27

Steven Moore

Journal of Human Genetics, 2014

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Follow-up of three patients with a large in-frame deletion of exons 45–55 in the Duchenne muscular dystrophy (DMD) gene

Shin'Ichi Takeda

Journal of Clinical Neuroscience, 2008

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Clinical features of patients with dystrophinopathy sharing the 45-55 exon deletion of DMD gene

Roberta Petillo, Esther Picillo, Manuela Ergoli, Alberto Palladino

Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology / edited by the Gaetano Conte Academy for the study of striated muscle diseases, 2015

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Molecular analysis of Duchenne/Becker muscular dystrophy

Giulia Frisso

Frontiers in Bioscience, 2010

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Functional changes in Becker muscular dystrophy: implications for clinical trials in dystrophinopathies OPEN

Corrado I Angelini

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Advances in Genetic Characterization and Genotype–Phenotype Correlation of Duchenne and Becker Muscular Dystrophy in the Personalized Medicine Era

Omar Ali Sheikh

Journal of Personalized Medicine, 2020

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Molecular Diagnosis of Duchenne/Becker muscular dystrophy in a family with no pathological antecedents of the disease

Tatiana Zaldivar

DOAJ (DOAJ: Directory of Open Access Journals), 2018

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Molecular analysis of the duchenne muscular dystrophy gene in patients with becker muscular dystrophy presenting with dilated cardiomyopathy

Shin'Ichi Takeda

Muscle & Nerve, 1993

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MLPA analysis/complete sequencing of the DMD gene in a group of Bulgarian Duchenne/Becker muscular dystrophy patients

Ivo M Kremensky

Neuromuscular Disorders, 2008

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The clinical and molecular genetic approach to Duchenne and Becker muscular dystrophy: an updated protocol

Ieke Ginjaar

Journal of Medical Genetics, 1997

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Integrated DNA, cDNA, and protein studies in Becker muscular dystrophy show high exception to the reading frame rule

Alberto Dubrovsky

Human Mutation, 2008

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Exploring the Molecular Basis for Variability among Patients with Becker Muscular Dystrophy: Dystrophin Gene and Protein Studies

Corrado I Angelini

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Analysis of Dystrophin Deletion Mutations Predicts Age of Cardiomyopathy Onset in Becker Muscular Dystrophy

Hugh Allen

Circulation-cardiovascular Genetics, 2009

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The genetic basis of undiagnosed muscular dystrophies and myopathies Results from 504 patients

Corrado I Angelini

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Molecular diagnosis of duchenne muscular dystrophy: Past, present and future in relation to implementing therapies

Stephen Wilton

The Clinical biochemist. Reviews / Australian Association of Clinical Biochemists

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Deletion analysis for Duchenne (and Becker) muscular dystrophy

Valentine Hyland

Journal of Paediatrics and Child Health, 1989

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Mutational spectrum of DMD mutations in dystrophinopathy patients: application of modern diagnostic techniques to a large cohort

Jerry Mendell

Human Mutation, 2009

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Molecular Genetic Analysis of Patients with Duchenne/Becker Muscular Dystrophy by Multiplex Ligation-Dependent Probe Amplification and Next-Generation Sequencing Techniques

Laily Najafi

Precision Medicine and Clinical OMICS

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Molecular deletion patterns in families from southern France with Duchenne/Becker muscular dystrophies

Marie Chevron

Human Genetics, 1991

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Evolution of cardiac abnormalities in Becker muscular dystrophy over a 13-year period

Willem de Voogt, Bert Bakker

J Neurol, 1997

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Advances in Molecular Analysis of Muscular Dystrophies

Arunkanth Ankala

cdn.intechopen.com

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