Results 41 to 50 of about 51,124 (249)
Lipid storage myopathy with clinical markers of Marfan syndrome: A rare association
Annals of Indian Academy of Neurology, 2012 Disorders of lipid metabolism can cause variable clinical presentations, often involving skeletal muscle, alone or together with other tissues. A 19-year-old boy presented with a 2-year history of muscle pain, cramps, exercise intolerance and progressive
Subasree Ramakrishnan +2 more
doaj +1 more source
Effect of Gender, Disease Duration and Treatment on Muscle Strength in Myasthenia Gravis. [PDF]
PLoS ONE, 2016 The aim of this observational, cross-sectional study was to quantify the potential presence of muscle weakness among patients with generalized myasthenia gravis (gMG).
Gülsenay Citirak +3 more
doaj +1 more source
FEBS Open Bio, EarlyView.In a murine model of myocardial ischemia and reperfusion (MI/R), the CD36 azapeptide ligand MPE‐298 reduces cardiac injury and transiently lowers left ventricular long‐chain fatty acids (LCFAs) accumulation 3 h after reperfusion, accompanied by a decrease of oxidative stress and inflammation‐associated genes' expression in the heart and adipose tissue.
Jade Gauvin +12 more
wiley +1 more source
Weakness and Progressive Muscle Tightness Diagnosed as Kennedy Disease
International Clinical Neuroscience Journal, 2015 Kennedy disease is a rare X-linked neurodegenerative disorder that affects patients in 30-50 years of age. It is caused by CAG-repeat in androgen receptor gen. There is no known effective treatment for Kennedy disease. We report a 60-year-old man who had
Behdad Behnam +2 more
doaj +1 more source
Cracking the Code: Genotype–Phenotype Correlation Models in Sarcoglycanopathies
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Sarcoglycanopathies are among the most severe limb‐girdle muscular dystrophies (LGMD), though milder presentations have been described. These diseases are primarily caused by missense variants, but the limited predictability of their effect on protein maturation, complex formation, and transport has hindered reliable genotype ...
Leonela Luce +72 more
wiley +1 more source
Early Clinical, Imaging, and Pathological Characteristics of SRPK3/TTN‐Digenic Myopathy
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SRPK3/TTN‐digenic myopathy was recently established as a skeletal muscle myopathy caused by digenic inheritance. This study characterizes the early clinical presentation of SRPK3/TTN‐digenic myopathy in one previously reported and seven newly identified pediatric patients.
Rotem Orbach +23 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective Sjögren's disease is an autoimmune disorder that can impact multiple organ systems, including the peripheral nervous system (PNS). PNS manifestations, which can exist concurrently, include mononeuropathies, polyneuropathies, and autonomic nervous system neuropathies.
Anahita Deboo +88 more
wiley +1 more source
Arthritis Care &Research, EarlyView.Objective The objective of this study was to describe the longitudinal disease course and pulmonary outcomes of North American patients with melanoma differentiation–associated protein 5 (MDA5) antibody–associated dermatomyositis (DM). Methods Thirty patients with MDA5 antibody–associated DM were identified in a single‐center longitudinal cohort of 352
Jenice X. Cheah +8 more
wiley +1 more source
Diagnostics, 2021 Immune-mediated necrotizing myopathy, a new subgroup of inflammatory myopathies, usually begins with subacute onset of symmetrical proximal muscle weakness.
Sunha Park +3 more
doaj +1 more source
Immunosuppressive Drug Use in Limited Systemic Sclerosis: An International Survey
Arthritis Care &Research, EarlyView.Objective Current guidelines recommend immunosuppressive treatment for diffuse cutaneous systemic sclerosis but are less clear on their use in limited cutaneous systemic sclerosis (lcSSc) in the absence of internal organ complications. We conducted an international survey to understand current immunosuppressive drug prescribing patterns in lcSSc ...
Sabrina Hoa +3 more
wiley +1 more source