A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics-Reference-Cited by-同舟云学术

A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics

Published:2015-01-08 Issue:2 Volume:3 Page:92-98
ISSN:2324-9269
Container-title:Molecular Genetics & Genomic Medicine
language:en
Short-container-title:Mol Genet Genomic Med

Author:

Al‐Zaidy Samiah A.¹²,Malik Vinod¹,Kneile Kelley³,Rosales Xiomara Q.¹²,Gomez Ana Maria¹,Lewis Sarah¹³,Hashimoto Sayaka³,Gastier‐Foster Julie⁴³,Kang Peter⁵,Darras Basil⁵,Kunkel Louis⁶,Carlo Jose⁷,Sahenk Zarife¹²,Moore Steven A.⁸,Pyatt Robert⁴³,Mendell Jerry R.¹²⁴

Affiliation:

1. Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center Nationwide Children's Hospital Columbus Ohio

2. Department of Pediatrics and Neurology The Ohio State University Columbus Ohio

3. Department of Pathology and Laboratory Medicine Nationwide Children's Hospital Columbus Ohio

4. Department of Pathology Ohio State University and Nationwide Children's Hospital Columbus Ohio

5. Department of Neurology Boston Children's Hospital and Harvard Medical School Boston Massachusetts

6. Division of Genetics and Genomics The Manton Center for Orphan Disease Research Boston Children's Hospital Boston Massachusetts

7. Department of Neurology School of Medicine University of Puerto Rico San Juan Puerto Rico

8. Department of Pathology The University of Iowa Carver College of Medicine Iowa City Iowa

Funder

National Institutes of Health

Publisher

Wiley

Subject

Genetics(clinical),Genetics,Molecular Biology

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.125

Reference26 articles.

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5. Membrane Targeting and Stabilization of Sarcospan Is Mediated by the Sarcoglycan Subcomplex

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