Neurol Clin, 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
Dimachkie MM, Barohn RJ.
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Panorama of the distal myopathies. [PDF]
Acta Myol, 2020 Peer ...
Savarese M +7 more
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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 +17 more
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Distal Myopathies and Beyond: An Updated Overview of the Welander Distal Myopathy [PDF]
CellsMyopathies are a heterogeneous group of disorders that primarily affect skeletal muscles and are classified as rare diseases owing to their low incidence.
Ana García-Rubio +2 more
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A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female. [PDF]
Mol Genet Genomic MedA 24‐year‐old heterozygous woman presented with lifelong hypotonia and slowly progressive, asymmetric axial and limb‐girdle weakness with facial/ocular involvement and restrictive ventilatory impairment (FVC 53.12% predicted). Multimodal evaluation (EMG, muscle MRI, and whole‐exome sequencing [WES]) identified a de novo MTM1 frameshift variant ...
Chen L, Bao Y, Liu G.
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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
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Quantitative Muscle MRI Fat Fraction as a Biomarker of Disease Severity in Mitochondrial Myopathies. [PDF]
J Cachexia Sarcopenia MuscleABSTRACT Background Quantitative muscle MRI is increasingly used to assess structural muscle damage in inherited myopathies, but its application in primary mitochondrial myopathies (PMM) has not been systematically evaluated in large cohorts. Because PMM are clinically and genetically heterogeneous, objective imaging biomarkers are needed to quantify ...
Bermejo-Moriñigo A +12 more
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Muscle MRI Contributes to the Differential Diagnosis Between Distal Myopathies and Distal Hereditary Motor Neuropathies. [PDF]
Eur J NeurolPayá M +14 more
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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
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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
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