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Significant liver disease in a patient with Y116H mutation in the MVK gene

✍ Scribed by Melissa Leyva-Vega; Pamela F. Weiss; Jaya Ganesh; Laura Conlin; Nancy B. Spinner; Randolph P. Matthews


Publisher
John Wiley and Sons
Year
2011
Tongue
English
Weight
251 KB
Volume
155
Category
Article
ISSN
1552-4825

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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