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Elevated Liver Enzymes Indicating a Diagnosis of Limb-Girdle Muscular Dystrophy

✍ Scribed by Lash, Tyler; Kraemer, Ryan R.

Book ID
125373136
Publisher
John Wiley and Sons
Year
2014
Tongue
English
Weight
114 KB
Volume
29
Category
Article
ISSN
0884-8734

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After studies which have mapped the -sarcoglycan deficient limb-girdle muscular dystrophy (LGMD2C) to chromosome 13q12 and recent identification of mutations within this gene, prenatal diagnosis has become possible. The deletion of exon 5 in the -sarcoglycan gene was found in a consanguineous family