Results 31 to 40 of about 17,793 (220)
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
Myopathy With SQSTM1 and TIA1 Variants: Clinical and Pathological Features
Frontiers in Neurology, 2018 ObjectiveThe aim of this study is to identify the molecular defect of three unrelated individuals with late-onset predominant distal myopathy; to describe the spectrum of phenotype resulting from the contributing role of two variants in genes located on ...
Zhiyv Niu +15 more
doaj +1 more source
Myofibrillar Myopathy Mimicking Polyneuropathy
Case Reports in Neurology, 2020 A 76-year-old man with a 5-year history of gait difficulties was suspected to have length-dependent sensorimotor polyneuropathy. Electrodiagnostic results pointed to a foot drop of neurogenic etiology, except for the prominence of myotonic discharges on ...
Pierre R. Bourque +2 more
doaj +1 more source
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source
Congenital Myasthenic Syndrome with Agrin Mutations
Pediatric Neurology Briefs, 2014 Investigators at Newcastle University, UK, and Hopitaux de Paris, France, report 5 patients from 3 unrelated families with a strikingly homogeneous clinical entity combining congenital myasthenia with distal muscle weakness and atrophy resembling a ...
J Gordon Millichap, John J Millichap
doaj +1 more source
Frontiers in Neurology, 2023 BackgroundMissense VCP gene variants lead to a disruption in protein homeostasis causing a spectrum of progressive degenerative diseases. Myopathy is the most frequent manifestation characterized by slowly progressing weakness of proximal and distal limb
Greta Asadauskaitė +3 more
doaj +1 more source
ADSSL1 mutation relevant to autosomal recessive adolescent onset distal myopathy
, 2017 OBJECTIVE: Distal myopathy is a heterogeneous group of muscle diseases characterized by predominant distal muscle weakness. A study was done to identify the underlying cause of autosomal recessive adolescent onset distal myopathy.
최영철, 김세훈
core +2 more sources
Different electrophysiology patterns in GNE myopathy
Orphanet Journal of Rare Diseases, 2022 Background GNE myopathy is a rare distal myopathy caused by mutations of the GNE gene. A few cases of GNE myopathy accompanied by neurogenic features of electrophysiology mimicking hereditary motor neuropathy were reported recently.
Xiangyi Liu +6 more
doaj +1 more source
Laing Early-onset Distal Myopathy Due to the MYH7 Mutation in an Iranian Family
Journal of Pediatrics Review, 2020 Introduction: Laing early-onset distal myopathy is a disorder with autosomal dominant inheritance pattern caused by a mutation in the MYH7 gene that encodes the human β-myosin heavy chain.
Shabnam Ghazanfari-Sarabi +2 more
doaj