Myopathy in the York Platelet Syndrome: An Underrecognized Complication

• Principais autores: Joy Roman (Autor), Michael I. Palmer (Autor), Cheryl A. Palmer (Autor), Nicholas E. Johnson (Autor), Russell J. Butterfield (Autor)
• Formato: Livro
• Publicado em: Hindawi Limited, 2018-01-01T00:00:00Z.
• Assuntos: article
• Acesso em linha: Connect to this object online.

York Platelet Syndrome (YPS) is a calcium channelopathy caused by gain of function in STIM1, a gene which acts as a calcium sensor. It is characterized by platelet abnormalities and muscle weakness. Medical literature emphasizes the hematologic aspects of the cases with few data of the neuromuscular...