Symptomatic female carriers of mutations in the Duchenne muscular dystrophy gene

Muscular Dystrophy ◽

Duchenne Muscular Dystrophy Gene ◽

The Duchenne muscular dystrophy gene product is localized in sarcolemma of human skeletal muscle

Nature ◽

10.1038/333466a0 ◽

1988 ◽

Vol 333 (6172) ◽

pp. 466-469 ◽

Cited By ~ 464

Author(s):

Elizabeth E. Zubrzycka-Gaarn ◽

Dennis E. Bulman ◽

George Karpati ◽

Arthur H. M. Burghes ◽

Bonnie Belfall ◽

...

Keyword(s):

Skeletal Muscle ◽

Muscular Dystrophy ◽

Gene Product ◽

Human Skeletal Muscle ◽

Codon Optimization of the Microdystrophin Gene for Duchenne Muscular Dystrophy Gene Therapy

Methods in Molecular Biology - Muscle Gene Therapy ◽

10.1007/978-1-61737-982-6_2 ◽

2010 ◽

pp. 21-37 ◽

Cited By ~ 12

Author(s):

Takis Athanasopoulos ◽

Helen Foster ◽

Keith Foster ◽

George Dickson

Keyword(s):

Gene Therapy ◽

Muscular Dystrophy ◽

Codon Optimization ◽

790. Evaluation of Immune Responses to Dystrophin in Humanized mdx HLA-A*0201 Dystrophic Mice: Application in Duchenne Muscular Dystrophy Gene Therapy after U7 snRNA-Mediated Exon Skipping

Molecular Therapy ◽

10.1016/j.ymthe.2005.07.328 ◽

2005 ◽

Vol 11 ◽

pp. S307 ◽

Cited By ~ 1

Keyword(s):

Gene Therapy ◽

Muscular Dystrophy ◽

Immune Responses ◽

Exon Skipping ◽

Duchenne Muscular Dystrophy Gene ◽

Dystrophic Mice

Accurate assessment of intragenic recombination frequency within the Duchenne muscular dystrophy gene

Genomics ◽

10.1016/0888-7543(90)90205-9 ◽

1990 ◽

Vol 7 (4) ◽

pp. 602-606 ◽

Cited By ~ 71

Author(s):

Stephen Abbs ◽

Roland G. Roberts ◽

Christopher G. Mathew ◽

David R. Bentley ◽

Martin Bobrow

Keyword(s):

Muscular Dystrophy ◽

Recombination Frequency ◽

Intragenic Recombination ◽

Accurate Assessment ◽

Calf hypertrophy and asymmetry in female carriers of X-linked Duchenne muscular dystrophy: an over-diagnosed clinical manifestation

Clinical Genetics ◽

10.1111/j.1399-0004.1981.tb01823.x ◽

2008 ◽

Vol 20 (2) ◽

pp. 168-172 ◽

Cited By ~ 6

Author(s):

N. P. C. Cavanagh ◽

M. A. Pkeece

Keyword(s):

Muscular Dystrophy ◽

Clinical Manifestation ◽

Engineering Exon-Skipping Vectors Expressing U7 snRNA Constructs for Duchenne Muscular Dystrophy Gene Therapy

Methods in Molecular Biology - Muscle Gene Therapy ◽

10.1007/978-1-61737-982-6_11 ◽

2010 ◽

pp. 179-196 ◽

Cited By ~ 3

Author(s):

Aurélie Goyenvalle ◽

Kay E. Davies

Keyword(s):

Gene Therapy ◽

Muscular Dystrophy ◽

Exon Skipping ◽

A resolved discrepancy between multiplex PCR and multiplex ligation-dependent probe amplification by targeted next-generation sequencing discloses a novel partial exonic deletion in the Duchenne muscular dystrophy gene

Journal of Clinical Laboratory Analysis ◽

10.1002/jcla.22575 ◽

2018 ◽

Vol 32 (8) ◽

pp. e22575 ◽

Cited By ~ 1

Author(s):

Chang Liu ◽

Huiting Deng ◽

Cheng Yang ◽

Xixi Li ◽

Yanrong Zhu ◽

...

Keyword(s):

Next Generation Sequencing ◽

Muscular Dystrophy ◽

Multiplex Pcr ◽

Next Generation ◽

Duchenne Muscular Dystrophy Gene ◽

Targeted Next Generation Sequencing ◽

Exonic Deletion ◽

Generation Sequencing ◽

Dependent Probe

Inflammation-induced fibrosis in skeletal muscle of female carriers of Duchenne muscular dystrophy

Neuromuscular Disorders ◽

10.1016/j.nmd.2019.05.003 ◽

2019 ◽

Vol 29 (7) ◽

pp. 487-496 ◽

Cited By ~ 2

Author(s):

Corinna Preuße ◽

Arpad von Moers ◽

Heike Kölbel ◽

Debora Pehl ◽

Hans-Hilmar Goebel ◽

...

Keyword(s):

Skeletal Muscle ◽

Muscular Dystrophy ◽

Duchenne muscular dystrophy: Gene and gene product; mechanism of mutation in the gene

Journal of Inherited Metabolic Disease ◽

10.1007/bf01799613 ◽

1992 ◽

Vol 15 (4) ◽

pp. 539-550 ◽

Cited By ~ 10

Author(s):

R. G. Worton

Keyword(s):

Muscular Dystrophy ◽

Gene Product ◽

Three Cases of Manifesting Female Carriers in Patients with Duchenne Muscular Dystrophy

Yonsei Medical Journal ◽

10.3349/ymj.2011.52.1.192 ◽

2011 ◽

Vol 52 (1) ◽

pp. 192 ◽

Cited By ~ 19

Author(s):

Tae-Jin Song ◽

Kyung-A Lee ◽

Seong-Woong Kang ◽

Hanna Cho ◽

Young-Chul Choi

Keyword(s):

Muscular Dystrophy ◽