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The Diagnostic Value of MRI Pattern Recognition in Distal Myopathies [PDF]
Frontiers in Neurology, 2018 Objective: Distal myopathies are a diagnostically challenging group of diseases. We wanted to understand the value of MRI in the current clinical setting and explore the potential for optimizing its clinical application.Methods: We retrospectively ...
Enrico Bugiardini +2 more
exaly +6 more sources
Panorama of the distal myopathies. [PDF]
Acta myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology, 2020 Peer ...
Savarese, Marco +7 more
europepmc +9 more sources
Neurologic Clinics, 2014 In this article, distal myopathy syndromes are discussed. A discussion of the more traditional distal myopathies is followed by discussion of the myofibrillar myopathies. Other clinically and genetically distinctive distal myopathy syndromes usually based on single or smaller family cohorts are reviewed. Other neuromuscular disorders that are important
Mazen M Dimachkie, Richard J Barohn
exaly +4 more sources
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
Clinical and muscle imaging findings in 14 mainland chinese patients with oculopharyngodistal myopathy. [PDF]
PLoS ONE, 2015 Oculopharyngodistal myopathy (OPDM) is an extremely rare, adult-onset hereditary muscular disease characterized by progressive external ocular, pharyngeal, and distal muscle weakness and myopathological rimmed vacuole changes.
Juan Zhao +11 more
doaj +1 more source
A novel recessive mutation affecting DNAJB6a causes myofibrillar myopathy
Acta Neuropathologica Communications, 2021 Mutations in the DNAJB6 gene have been identified as rare causes of myofibrillar myopathies. However, the underlying pathophysiologica mechanisms remain elusive.
Fang-Yuan Qian +9 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
Congenital myopathies: The current status
Indian Journal of Pathology and Microbiology, 2022 Within the history of neuromuscular diseases (NMD), congenital myopathies (CM) represent a relatively new category introduced in the mid-nineteen hundreds upon advent and subsequent application of enzyme histochemistry and electron microscopy by ...
Hans H Goebel +2 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
Orphanet Journal of Rare Diseases, 2022 Background Alterations in the MYH7 gene can cause cardiac and skeletal myopathies. MYH7-related skeletal myopathies are extremely rare, and the vast majority of causal variants in the MYH7 gene are predicted to alter the rod domain of the of ß-cardiac ...
Ingrid Bader +9 more
doaj +1 more source