Journal of International Medical Research, 2022 A 26-year-old Asian woman with persistent muscle weakness was diagnosed with polymyositis based on biopsy findings at another hospital 11 years ago. However, her symptoms fluctuated repeatedly under treatment with prednisone and immunosuppressive agents,
Xiaoli Pan +4 more
doaj +1 more source
Statin and fibrate associed myopathy: study of eight patients [PDF]
Arquivos de Neuro-Psiquiatria, 2004 Lipid-lowering drugs have been occasionally associated with neuromuscular symptoms and muscle biopsy changes. We reported the clinical course and the muscle biopsy in eight patients with hyperlipoproteinemia, treated with lipid -lowering drugs (statins ...
Alzira A. Siqueira Carvalho +2 more
doaj +1 more source
Validation of a score tool for measurement of histological severity in juvenile dermatomyositis and association with clinical severity of disease. [PDF]
, 2013 OBJECTIVES: To study muscle biopsy tissue from patients with juvenile dermatomyositis (JDM) in order to test the reliability of a score tool designed to quantify the severity of histological abnormalities when applied to biceps humeri in addition to ...
Amato, Anthony A +19 more
core +3 more sources
Cereal and nonfat milk support muscle recovery following exercise [PDF]
, 2009 All authors are with the Exercise Physiology and Metabolism Laboratory Department of Kinesiology and Health Education The University of Texas at Austin Austin, TX, USABackground: This study compared the effects of ingesting cereal and nonfat milk (Cereal)
Ding, Zhenping +5 more
core +3 more sources
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]
, 2020 Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran +10 more
core +1 more source
Current Opinion in Rheumatology, 1995 Muscle biopsy remains a critical component in the evaluation of myopathies. Recent literature demonstrates that percutaneous biopsy instruments can effectively procure muscle tissue for analysis in clinical and research settings. We review issues of muscle biopsy technique and specimen processing in the context of available clinical methods for tissue ...
K S, O'Rourke, R W, Ike
openaire +4 more sources
A national registry for juvenile dermatomyositis and other paediatric idiopathic inflammatory myopathies: 10 years' experience; the Juvenile Dermatomyositis National (UK and Ireland) Cohort Biomarker Study and Repository for Idiopathic Inflammatory Myopathies [PDF]
, 2011 Objectives: The paediatric idiopathic inflammatory myopathies (IIMs) are a group of rare chronic inflammatory disorders of childhood, affecting muscle, skin and other organs.
Bohan +50 more
core +1 more source
Altered splicing of the BIN1 muscle-specific exon in humans and dogs with highly progressive centronuclear myopathy [PDF]
, 2013 Amphiphysin 2, encoded by BIN1, is a key factor for membrane sensing and remodelling in different cell types. Homozygous BIN1 mutations in ubiquitously expressed exons are associated with autosomal recessive centronuclear myopathy (CNM), a mildly ...
A Buj-Bello +58 more
core +7 more sources
Early Findings in Neonatal Cases of RYR1–Related Congenital Myopathies
Frontiers in Neurology, 2021 Ryanodine receptor type 1-related congenital myopathies are the most represented subgroup among congenital myopathies (CMs), typically presenting a central core or multiminicore muscle histopathology and high clinical heterogeneity. We evaluated a cohort
Eleonora Mauri +17 more
doaj +1 more source