Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier-Reference-Cited by-同舟云学术

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Variable dystrophin expression in different muscles of a Duchenne muscular dystrophy carrier

Published:2008-06-28 Issue:1 Volume:42 Page:35-38
ISSN:0009-9163
Container-title:Clinical Genetics
language:en
Short-container-title:

Author:

Muntoni Francesco,Mateddu Anna,Marrosu Maria Giovanna,Cau Miiena,Congiu Rita,Melis Maria Antonietta,Cao Antonio,Cianchetti Carlo

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1111/j.1399-0004.1992.tb03133.x/fullpdf

Reference14 articles.

1. Mosaic expression of dystrophin in symptomatic carriers of Duchenne muscular dystrophy;Arahata;N Engl J Med,1989

2. A polymorphic CACA repeat in the 3 untranslated region of dystrophin;Beggs;Nucl Acid Res,1990

3. Normal and dystrophin deficient muscle fibres in carriers of the gene for Duchenne muscular dystrophy;Bonilla;Am J Pathol,1988

4. Partial dystrophin deficiency in monozygous twin carrier discordant for clinical myopathy;Bonilla;Neurology,1990

5. Characterization of dystrophin in carriers of Duchenne muscular dystrophy;Clerk;J Neurol Sci,1991

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1. 263rd ENMC International Workshop: Focus on female carriers of dystrophinopathy: refining recommendations for prevention, diagnosis, surveillance, and treatment. Hoofddorp, The Netherlands, 13-15 May 2022;Neuromuscular Disorders;2023-03

2. DMD carrier model with mosaic dystrophin expression in the heart reveals complex vulnerability to myocardial injury;Human Molecular Genetics;2020-01-24

3. Muscular Dystrophies and Allied Disorders I;Muscle Biopsy;2020

4. Dystrophinopathies;Neuromuscular Disorders of Infancy, Childhood, and Adolescence;2015

5. Symptomatic female carriers of Duchenne muscular dystrophy (DMD): Genetic and clinical characterization;Journal of the Neurological Sciences;2014-01

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