نتایج جستجو برای: related disorders

تعداد نتایج: 1704065  

Journal: :Journal of Vascular Surgery 1993

Journal: :Journal of Neurology, Neurosurgery & Psychiatry 1995

Journal: :Annals of Physical and Rehabilitation Medicine 2011

Journal: :Indian Journal of Rheumatology 2014

Journal: :World Journal of Gastroenterology 2014

Journal: :The Primary Care Companion For CNS Disorders 2013

Journal: :Neuromuscular Disorders 2023

Mutations in RYR1 encoding the ryanodine receptor (RyR) skeletal muscle isoform (RyR1) are a common cause of inherited neuromuscular disorders. Despite its expression wide range tissues, non-skeletal manifestations associated with mutations have only been rarely reported.Here, we report three patients diagnosis Central Core Disease (CCD), King-Denborough Syndrome (KDS) and Malignant Hyperthermi...

Journal: :Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease 2007

Journal: :Journal of Medical Genetics 2005

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