Results 11 to 20 of about 159,117 (304)
Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]
, 2020 ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A +12 more
core +1 more source
Current Opinion in Neurology, 2014 Purpose of reviewOur aim is to highlight major advances reported in the last few years in drug-induced muscle toxicity.Recent findingsOur focus is on myopathies induced by statins and immune checkpoint inhibitors with a brief overview of rare steroid myopathies.
Mamatha, Pasnoor +2 more
openaire +3 more sources
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +1 more source
A rare structural myopathy: nemaline myopathy [PDF]
Türk Pediatri Arşivi, 2018 Nemaline myopathy, which is characterized by the accumulation of ''rod'' bodies in muscle fibers is a very rare inherited muscle disease. According to the underlying mutation, the disease has varying severity of clinical outcomes. Patients with severe forms of the disease die because of hypotonia, feeding difficulties, aspiration pneumonia, and ...
Yeşilbaş, Osman +7 more
openaire +2 more sources
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
A Systematic Review and Meta-Analysis of the Prevalence of Congenital Myopathy
Frontiers in Neurology, 2021 Background: Congenital myopathy constitutes a heterogeneous group of orphan diseases that are mainly classified on the basis of muscle biopsy findings. This study aims to estimate the prevalence of congenital myopathy through a systematic review and meta-
Kun Huang +3 more
doaj +1 more source
Journal of the Saudi Heart Association, 2019 A well-known side effect of statin therapy is myopathy. We report a case of statin induced necrotizing autoimmune myopathy, a rare variant of statin-induced myopathy. A 64-year-old gentleman on atorvastatin presented with muscle weakness.
Yehia Saleh +3 more
doaj +1 more source
The prediction of the development of diabetic myopathy in children with type 1 diabetes mellitus
Zdorovʹe Rebenka, 2021 Background. The purpose was to determine the frequency, risk factors of the development of diabetic myopathy in children with type 1 diabetes mellitus (DM1), and to create a mathematical model for predicting the formation of pathology.
O.Ye. Pashkova, N.I. Chudova
doaj +1 more source
A Case of Statin-Associated Autoimmune Myopathy. [PDF]
, 2017 A 70-year-old previously independent man developed progressive proximal leg weakness resulting in a fall at home suffering traumatic brain injury. He was prescribed a statin medication two years prior, but this was discontinued on admission to the ...
Dokukin, Andrei N +6 more
core +3 more sources
GNE myopathy (Nonaka myopathy)
Анналы клинической и экспериментальной неврологии, 2019 GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya +2 more
doaj +1 more source