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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 ...
Jasper M Morrow +2 more
exaly +4 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
Richard J Barohn, Mazen Dimachkie
exaly +5 more sources
Panorama of the distal myopathies. [PDF]
Acta Myol, 2020 Peer ...
Savarese M +7 more
europepmc +6 more sources
Biological properties of α-actinin-2 and its role and mechanisms in disease development [PDF]
Frontiers in Physiologyα-Actinin-2 (encoded by the ACTN2 gene) is a critical cytoskeletal protein predominantly expressed in skeletal and cardiac muscle, where it anchors actin filaments to the sarcomeric Z-disk. While its structural role is well-established, emerging evidence
Juan Meng +7 more
doaj +2 more sources
Myofascial trigger points as a primary cause of equine lameness: a biomechanical, neurophysiological, and fascial review [PDF]
Frontiers in Veterinary ScienceEquine lameness diagnosis is dominated by a joint- and tendon-centric paradigm. The standard diagnostic algorithm relies on gait observation, perineural and intrasynovial anesthesia, and cross-sectional imaging.
Markus Scheibenpflug, Kevin K. Haussler
doaj +2 more sources
Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies [PDF]
European Journal of NeurologyHerminia Argente-Escrig +2 more
exaly +2 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