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Myopathy in the York Platelet Syndrome: An Underrecognized Complication

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...

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Detalles Bibliográficos
Autores principales: Roman, Joy, Palmer, Michael I., Palmer, Cheryl A., Johnson, Nicholas E., Butterfield, Russell J.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Hindawi 2018
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6109526/
https://www.ncbi.nlm.nih.gov/pubmed/30159190
http://dx.doi.org/10.1155/2018/5130143