Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy-Reference-Cited by-同舟云学术

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Deficiency of the syntrophins and α-dystrobrevin in patients with inherited myopathy

Published:2003-08 Issue:6 Volume:13 Page:456-467
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Jones K.J,Compton A.G,Yang N,Mills M.A,Peters M.F,Mowat D,Kunkel L.M,Froehner S.C,North K.N

Publisher

Elsevier BV

Subject

Genetics(clinical),Clinical Neurology,Neurology,Pediatrics, Perinatology, and Child Health

Reference54 articles.

1. Dystrophin: the protein product of the Duchenne muscular dystrophy locus;Hoffman;Cell,1987

2. Complete cloning of the Duchenne muscular dystrophy (DMD) cDNA and preliminary genomic organisation of the DMD gene in normal and affected individuals;Koenig;Cell,1987

3. Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy;Roberds;Cell,1994

4. Mutations in the laminin alpha 2-chain gene (LAMA2) cause merosin-deficient congenital muscular dystrophy;Helbling Leclerc;Nat Genet,1995

5. Beta-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex;Bonnemann;Nat Genet,1995

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1. Variants in DTNA cause a mild, dominantly inherited muscular dystrophy;Acta Neuropathologica;2023-02-17

2. Humanizing the mdx mouse model of DMD: the long and the short of it;npj Regenerative Medicine;2018-02-16

3. Ring chromosome 18 in combination with 18q12.1 (DTNA) interstitial microdeletion in a patient with multiple congenital defects;Molecular Cytogenetics;2016-02-18

4. Arthrogryposes (Multiple Congenital Contractures);Emery and Rimoin's Principles and Practice of Medical Genetics;2013

5. Contribution of oxidative stress to pathology in diaphragm and limb muscles with Duchenne muscular dystrophy;Journal of Muscle Research and Cell Motility;2012-10-28

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