Results 31 to 40 of about 333,621 (210)
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
An autopsy study of a familial oculopharyngeal muscular dystrophy (OPMD) with distal spread and neurogenic involvement [PDF]
, 1981 An 81-year-old man from a family with a history of oculopharyngeal muscular dystrophy (OPMD) involving 6 members over 4 generations is described. The patient first noted drooping of his eyelids at the age of 65.
Krause, Klaus-Henning, Schmitt, H.-P.
core +1 more source
causes an early adult onset distal myopathy [PDF]
, 2023 Missense mutations in MYOT encoding the sarcomeric Z-disk protein myotilin cause three main myopathic phenotypes including proximal limb-girdle muscular dystrophy, spheroid body myopathy, and late-onset distal myopathy.
Valeria Guglielmi +29 more
core +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
UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) binds to alpha-actinin 1: novel pathways in skeletal muscle? [PDF]
, 2008 Hereditary inclusion body myopathy (HIBM) is a rare neuromuscular disorder caused by mutations in GNE, the key enzyme in the biosynthetic pathway of sialic acid.
North Kathryn N. +31 more
core +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