A slowly progressive form of limb‐girdle muscular dystrophy type 2C associated with founder mutation in the SGCG gene in Puerto Rican Hispanics. Issue 2 (8th January 2015)

• Record Type: Journal Article
• Authors: Al‐Zaidy, Samiah A.; Malik, Vinod; Kneile, Kelley; Rosales, Xiomara Q.; Gomez, Ana Maria; Lewis, Sarah; Hashimoto, Sayaka; Gastier‐Foster, Julie; Kang, Peter; Darras, Basil; Kunkel, Louis; Carlo, Jose; Sahenk, Zarife; Moore, Steven A.; Pyatt, Robert; Mendell, Jerry R.
• Is Part Of: Molecular genetics & genomic medicine. Volume 3:Issue 2(2015:Mar.)
• Page Start: 92
• Page End: 98
• Publication Date: 2015-01-08
• Subjects: Medical genetics -- Periodicals; Genomics -- Periodicals; 616.042
• DOI: 10.1002/mgg3.125
• Languages: English
• ISSNs: 2324-9269

Abstract

<abstract abstract-type="graphical" xml:lang="en" id="mgg3125-abs-0002"> <title> <x xml:space="preserve">Abstract</x> </title> <p>In this report, we describe four unrelated LGMD2C patients of Hispanic descent from the island of Puerto Rico that share a E263K (G787A) mutation within exon 8 of the <italic>SGCG</italic> gene. A slowly progressive phenotype with prolonged preservation of ambulation is illustrated in two of our patients. We also confirmed the founder effect of this mutation among Puerto Rican Hispanics using linkage analysis and determined that this mutation in affected individuals segregates with alleles inherited from each parent. <boxed-text content-type="graphic" id="mgg3125-blkfxd-0001" position="anchor" orientation="portrait"><graphic position="anchor" mimetype="image" xlink:href="ark:/27927/pgj5jh8fsc" orientation="portrait" xlink:type="simple" xmlns:xlink="http://www.w3.org/1999/xlink" /></boxed-text></p> </abstract>