CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 V. Lehtokari +5 more
+8 more sources
Weakness After an Intra-articular Steroid Injection: A Case Report of Acute Steroid-induced Myopathy
Clinical Practice and Cases in Emergency Medicine, 2022 Introduction: Weakness is a common chief complaint in the emergency department, and the use of glucocorticoids is pervasive in medicine. Muscle weakness, or myopathy, is a well documented side effect of chronic glucocorticoid use. However, acute myopathy,
Matthew R. Jordan +2 more
doaj +1 more source
Immune myopathies with perimysial pathology: Clinical and laboratory features [PDF]
, 2018 ObjectiveImmune myopathies with perimysial pathology (IMPP) have a combination of damage to perimysial connective tissue and muscle fiber necrosis, more prominent near the perimysium.
Bucelli, Robert C, Pestronk, Alan
core +2 more sources
The myokine GDF-15 is a potential biomarker for myositis and associates with the protein aggregates of sporadic inclusion body myositis. [PDF]
, 2020 Background: The cytokine growth differentiation factor-15 (GDF-15) has been associated with inflammatory and mitochondrial disease, warranting exploration of its expression in myositis patients.
De Bleecker, Jan +2 more
core +2 more sources
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Aarli +49 more
core +1 more source
Endocrine myopathy: Case-based review
Journal of Dr. NTR University of Health Sciences, 2016 Endocrine myopathy means muscle weakness in the presence of an abnormal endocrine state. Most of the endocrine disorders are associated with myopathy and it is usually reversible with correction of the underlying disturbance, though, there is an ...
Babul Reddy Hanmayyagari +4 more
doaj +1 more source
BMC Rheumatology, 2022 Background Nemaline myopathies are congenital or acquired muscle disorders that typically present in childhood but can occasionally occur in adults with underlying malignant, infectious or autoimmune disorders.
Christina Vogel +3 more
doaj +1 more source
Detection of equine atypical myopathy-associated hypoglycin A in plant material: Optimisation and validation of a novel LC-MS based method without derivatisation [PDF]
, 2018 Hypoglycin A (HGA) toxicity, following ingestion of material from certain plants, is linked to an acquired multiple acyl-CoA dehydrogenase deficiency known as atypical myopathy, a commonly fatal form of equine rhabdomyolysis seen worldwide.
González-Medina, S +3 more
core +2 more sources
Mutation update and genotype-phenotype correlations of novel and previously described mutations in TPM2 and TPM3 causing congenital myopathies [PDF]
, 2014 Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome.
Barnerias, Christine +40 more
core +1 more source
Testing of therapies in a novel nebulin nemaline myopathy model demonstrate a lack of efficacy
Acta Neuropathologica Communications, 2018 Nemaline myopathies are heterogeneous congenital muscle disorders causing skeletal muscle weakness and, in some cases, death soon after birth. Mutations in nebulin, encoding a large sarcomeric protein required for thin filament function, are responsible ...
Tamar E. Sztal +5 more
doaj +1 more source