Results 11 to 20 of about 7,273 (190)
Novel Desmin Mutation Causing Myofibrillar Myopathy in a Hmong Family
Frontiers in Neurology, 2020 Myofibrillar myopathies (MFM) are a clinically and genetically heterogenous group of inherited myopathies characterized by aggregation of Z-disc proteins. Mutations in desmin account for ~7% of MFM.
Stefan Nicolau +2 more
doaj +1 more source
Treatment of severe equinovarus deformity associated with distal myopathy
Foot & Ankle Surgery: Techniques, Reports & Cases, 2023 Inclusion body myopathy (IBM) is a form of distal myopathy which is characterized by progressive muscle weakness and wasting.1 A healthy 23-year-old male with unremarkable past medical history presented with left ankle pain and contracture of ...
Caleb Thomas, DPM +2 more
doaj +1 more source
Orphanet Journal of Rare Diseases, 2022 Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader +9 more
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Congenital myopathies: The current status
Indian Journal of Pathology and Microbiology, 2022 Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel +2 more
doaj +1 more source
Distal myopathies a review: Highlights on distal myopathies with rimmed vacuoles [PDF]
Neurology India, 2008 Distal myopathies are a group of heterogeneous disorders classified into one broad category due to the presentation of weakness involving the distal skeletal muscles. The recent years have witnessed increasing efforts to identify the causative genes for distal myopathies.
Malicdan, May Christine V. +1 more
openaire +2 more sources
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
doaj
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Orphanet Journal of Rare Diseases, 2020 Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka +8 more
doaj +1 more source
Scientific Reports, 2022 To describe the peripheral angiographic features of vasculopathy in idiopathic inflammatory myopathies (IIM) and systemic sclerosis (SSc) in comparison to polyarteritis nodosa (PAN).
Jina Yeo +3 more
doaj +1 more source
Arquivos de Neuro-Psiquiatria, 1996 Estudamos 16 casos entre 1400 biópsias musculares que apresentavam vacúolos marginados, cujo aspecto histológico sugeria corpos de inclusão citoplasmáticos. Procuramos correlacionar os dados clínicos, laboratoriais e histopatológicos, a fim de determinar
Rosana Herminia Scola +2 more
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