Frontiers in Cell and Developmental Biology, 2023 Myotonic dystrophy type 1 is a multisystemic disorder with predominant muscle and neurological involvement. Despite a well described pathomechanism, which is primarily a global missplicing due to sequestration of RNA-binding proteins, there are still ...
Vanessa Todorow +3 more
doaj +1 more source
Muscle Biopsy and Electromyography Correlation
Frontiers in Neurology, 2018 Introduction: In myopathies, the correlation of individual electromyographic and histopathologic findings remains poorly explored, as most previous studies have focused on the ability of muscle biopsy and electromyography to distinguish the neuropathic ...
Elie Naddaf +4 more
doaj +1 more source
Idiopathic inflammatory myopathy: From muscle biopsy to serology
Indian Journal of Rheumatology, 2020 Idiopathic inflammatory myopathies (IIMs) are heterogeneous group of muscle disorders characterized by variable degree of muscle weakness and muscle inflammation. Various classification systems have been proposed for myositis.
Ritu Verma, Vimal Kumar Paliwal
doaj +1 more source
Adipocyte-Like Differentiation in a Posttreatment Embryonal Rhabdomyosarcoma. [PDF]
, 2015 We describe a 16-year-old boy with rhabdomyosarcoma, consistent with embryonal subtype, of the lower extremity who received systemic neoadjuvant chemotherapy and subsequent excision.
Balitzer, Dana +2 more
core +4 more sources
Non-alcoholic fatty liver disease connections with fat-free tissues: A focus on bone and skeletal muscle [PDF]
, 2017 The estimates of global incidence and prevalence of non-alcoholic fatty liver disease (NAFLD) are worrisome, due to the parallel burden of obesity and its metabolic complications. Indeed, excess adiposity and insulin resistance represent two of the major
Chiesa, Claudio +4 more
core +2 more sources
Major Histocompatibility Complex I and II Expression and Lymphocytic Subtypes in Muscle of Horses with Immune-Mediated Myositis. [PDF]
, 2016 BackgroundMajor histocompatibility complex (MHC) I and II expression is not normally detected on sarcolemma, but is detected with lymphocytic infiltrates in immune-mediated myositis (IMM) of humans and dogs and in dysferlin-deficient muscular dystrophy ...
Barnes, N +6 more
core +1 more source
Rare manifestation of a c.290 C\u3eT, p.Gly97Glu VCP mutation [PDF]
, 2015 Introduction. The valosin-containing protein (VCP) regulates several distinct cellular processes. Consistent with this, VCP mutations manifest variable clinical phenotypes among and within families and are a diagnostic challenge. Methods.
Chou, Tsui-Fen +9 more
core +4 more sources
Biomarkers in Inflammatory Myopathies – An Expanded Definition [PDF]
, 2019 Biomarkers as parameters of pathophysiological conditions can be of outmost relevance for inflammatory myopathies. They are particularly warranted to inform about diagnostic, prognostic, and therapeutic questions.
Benveniste, Olivier +2 more
core +3 more sources
Cromakalim (BRL 34915) restores in vitro the membrane potential of depolarized human skeletal muscle fibres [PDF]
, 1989 The purpose of the present study was to analyze the effects of cromakalim (BRL 34915), a potent drug from a new class of drugs characterized as K+ channel openers, on the electrical activity of human skeletal muscle.
Grafe, Peter +2 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