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Late-onset adenosine deaminase deficiency presenting with Heck’s disease

✍ Scribed by Hasibe Artac; Bahar Göktürk; Sefika Elmas Bozdemir; Hatice Toy; Mirjam van der Burg; Ines Santisteban; Michael Hershfield; Ismail Reisli


Book ID
106121964
Publisher
Springer
Year
2009
Tongue
English
Weight
202 KB
Volume
169
Category
Article
ISSN
0340-6997

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McArdle's disease or myophosphorylase deficiency is one of the most common muscle glycogenoses and typically presents in childhood or adolescence with exercise intolerance, myalgia, myoglobinuria, and cramps in exercising muscle. We describe an elderly man who developed asymmetric proximal arm weakn