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

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Title: A slowly progressive form of limb-girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics.
Authors: Al-Zaidy SA; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics and Neurology, The Ohio State University Columbus, Ohio., Malik V; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio., Kneile K; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Rosales XQ; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics and Neurology, The Ohio State University Columbus, Ohio., Gomez AM; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio., Lewis S; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Hashimoto S; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Gastier-Foster J; Department of Pathology, Ohio State University and Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Kang P; Department of Neurology, Boston Children's Hospital and Harvard Medical School Boston, Massachusetts., Darras B; Department of Neurology, Boston Children's Hospital and Harvard Medical School Boston, Massachusetts., Kunkel L; Division of Genetics and Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital Boston, Massachusetts., Carlo J; Department of Neurology, School of Medicine, University of Puerto Rico San Juan, Puerto Rico., Sahenk Z; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics and Neurology, The Ohio State University Columbus, Ohio., Moore SA; Department of Pathology, The University of Iowa Carver College of Medicine Iowa City, Iowa., Pyatt R; Department of Pathology, Ohio State University and Nationwide Children's Hospital Columbus, Ohio ; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital Columbus, Ohio., Mendell JR; Center for Gene Therapy and Paul D. Wellstone Muscular Dystrophy Research Center, Nationwide Children's Hospital Columbus, Ohio ; Department of Pediatrics and Neurology, The Ohio State University Columbus, Ohio ; Department of Pathology, Ohio State University and Nationwide Children's Hospital Columbus, Ohio.
Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2015 Mar; Vol. 3 (2), pp. 92-8. Date of Electronic Publication: 2015 Jan 08.
Publication Type: Journal Article
Journal Info: Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print-Electronic Cited Medium: Print ISSN: 2324-9269 (Print) Linking ISSN: 23249269 NLM ISO Abbreviation: Mol Genet Genomic Med Subsets: PubMed not MEDLINE
Database: MEDLINE Ultimate
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Description
ISSN:2324-9269
DOI:10.1002/mgg3.125