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Identification of a missense mutation in the melusin-encoding ITGB1BP2 gene in a patient with dilated cardiomyopathy

✍ Scribed by Volker Ruppert; Thomas Meyer; Anette Richter; Bernhard Maisch; Sabine Pankuweit


Book ID
119241504
Publisher
Elsevier Science
Year
2013
Tongue
English
Weight
429 KB
Volume
512
Category
Article
ISSN
0378-1119

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We identified a novel missense mutation in the myophosphorylase gene (PYGM) in a Spanish patient with McArdle's disease. This homozygous T-to-C transition results in the replacement of a highly conserved tryptophan at amino acid position (aa) 797 with an arginine in the C-terminal domain of the PYGM