Chloroquine and Hydroxychloroquine Myopathy: Clinical Spectrum and Treatment Outcomes
Frontiers in Neurology, 2021 Chloroquine (CQ) and hydroxychloroquine (HCQ) have been associated with muscle toxicity, mostly described as a proximal myopathy with evidence of lysosomal dysfunction on muscle biopsy.
Elie Naddaf +2 more
doaj +1 more source
Aquaporin-4 expression in distal myopathy with rimmed vacuoles
BMC Neurology, 2012 Background Distal myopathy with rimmed vacuoles/hereditary inclusion body myopathy is clinically characterized by the early involvement of distal leg muscles. The striking pathological features of the myopathy are muscle fibers with rimmed vacuoles.
Hoshi Akihiko +5 more
doaj +1 more source
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
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
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
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
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 +6 more sources
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 ...
Osman Yeşilbaş +7 more
openaire +3 more sources
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
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