Results 11 to 20 of about 16,852 (152)
The challenging diagnosis of dysferlinopathy – a case report [PDF]
Romanian Journal of Neurology, 2021 Objectives. Dysferlinopathies are a group of rare genetic myopathies characterized by muscle weakness and atrophy with four distinct clinical phenotypes: Miyoshi myopathy, limb girdle muscular dystrophy type 2B, distal myopathy with anterior tibial onset
Claudiu Gabriel Socoliuc +4 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
Journal of Medical Case Reports, 2012 Introduction Miyoshi myopathy, a type of distal myopathy with predominant involvement of the posterior calf muscles, has been assigned to mutations in the dysferlin gene.
Neusch Clemens +3 more
doaj +1 more source
Panorama of the distal myopathies.
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020 Peer ...
Savarese, Marco +7 more
openaire +5 more sources
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
GGC repeat expansions in NOTCH2NLC causing a phenotype of distal motor neuropathy and myopathy
Annals of Clinical and Translational Neurology, 2021 Background The expansion of GGC repeat in the 5' untranslated region of the NOTCH2NLC has been associated with various neurogenerative disorders of the central nervous system and, more recently, oculopharyngodistal myopathy.
Jiaxi Yu +20 more
doaj +1 more source
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