Application whole exome sequencing for the clinical molecular diagnosis of patients with Duchenne muscular dystrophy; identification of four novel nonsense mutations in four unrelated Chinese DMD patients

Novel Mutation of the Dystrophin Gene in a Child with Duchenne Muscular Dystrophy

(2018) Jingjing Jiang et al.   Fetal and Pediatric Pathology

Next Generation Sequencing approach to molecular diagnosis of Duchenne muscular dystrophy; identification of a novel mutation

(2018) Reza Ebrahimzadeh-Vesal et al.   GENE

Novel noncontiguous duplications identified with a comprehensive mutation analysis in the DMD gene by DMD gene-targeted sequencing

(2018) Yan Xu et al.   GENE

A novel human muscle cell model of Duchenne muscular dystrophy created by CRISPR/Cas9 and evaluation of antisense-mediated exon skipping

(2018) Takenori Shimo et al.   JOURNAL OF HUMAN GENETICS

Duchenne muscular dystrophy caused by a novel deep intronic DMD mutation

(2018) Matthew R. Ginsberg et al.   MUSCLE & NERVE

A novel point mutation affecting Asn76 of dystrophin protein leads to dystrophinopathy

(2018) Katalin Koczok et al.   NEUROMUSCULAR DISORDERS

A novel high-throughput immunofluorescence analysis method for quantifying dystrophin intensity in entire transverse sections of Duchenne muscular dystrophy muscle biopsy samples

(2018) Valentina Sardone et al.   PLoS One

Normal and altered pre-mRNA processing in the DMD gene

(2017) Sylvie Tuffery-Giraud et al.   HUMAN GENETICS

Mouse models of two missense mutations in actin-binding domain 1 of dystrophin associated with Duchenne or Becker muscular dystrophy

(2017) Jackie L McCourt et al.   HUMAN MOLECULAR GENETICS

Deletions, not duplications or small mutations, are the predominante new mutations in the dystrophin gene

(2017) Janusz G Zimowski et al.   JOURNAL OF HUMAN GENETICS

Genetic analysis of the dystrophin gene in children with Duchenne and Becker muscular dystrophies

(2017) Jingzi Zhong et al.   MUSCLE & NERVE

Cardiac involvement in female carriers of duchenne or becker muscular dystrophy

(2017) Thomas Mccaffrey et al.   MUSCLE & NERVE

Dystrophin–glycoprotein complex sequesters Yap to inhibit cardiomyocyte proliferation

(2017) Yuka Morikawa et al.   NATURE

Duchenne muscular dystrophy in a female with compound heterozygous contiguous exon deletions

(2017) Eri Takeshita et al.   NEUROMUSCULAR DISORDERS

Deep intronic variants introduce DMD pseudoexon in patient with muscular dystrophy

(2017) Ann-Kathrin Zaum et al.   NEUROMUSCULAR DISORDERS

Repression of phosphatidylinositol transfer protein α ameliorates the pathology of Duchenne muscular dystrophy

(2017) Natassia M. Vieira et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Duchenne muscular dystrophy caused by a frame-shift mutation in the acceptor splice site of intron 26

(2016) Mirella Meregalli et al.   BMC Medical Genetics

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

(2015) Sue Richards et al.   GENETICS IN MEDICINE