Results 1 to 10 of about 12,800 (285)

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, Jasper M. Morrow, Sachit Shah, Sachit Shah, Claire L. Wood, David S. Lynch, Alan M. Pitmann, Mary M. Reilly, Mary M. Reilly, Henry Houlden, Emma Matthews, Matt Parton, Michael G. Hanna, Michael G. Hanna, Volker Straub, Tarek A. Yousry, Tarek A. Yousry, Tarek A. Yousry   +17 more
doaj   +3 more sources

Distal myopathies. [PDF]

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.
europepmc   +4 more sources

 A novel variant in the tropomyosin 3 gene presenting as an adult-onset distal myopathy - a case report [PDF]

BMC Neurology, 2023
Background We report a patient with a novel c.737 C > T variant (p.Ser246Leu) of the TPM3 gene presenting with adult-onset distal myopathy. Case presentation A 35-year-old Chinese male patient presented with a history of progressive finger weakness ...
Zhiyong Chen, Monica Saini, Jasmine Shimin Koh, Gareth Zigui Lim, Nancy Jiaojiao Dang, Kalpana Prasad, Swee Hoon Koh, Karine Su Shan Tay, Ming Lee, Helen Lisa Ong, Yi Zhao, Ankit Tandon, Josiah Yui Huei Chai   +12 more
doaj   +2 more sources

RYR1 causing distal myopathy [PDF]

Molecular Genetics & Genomic Medicine, 2017
AbstractBackgroundCongenital myopathies due to ryanodine receptor (RYR1) mutations are increasingly identified and correlate with a wide range of phenotypes, most commonly that of malignant hyperthermia susceptibility and central cores on muscle biopsy with rare reports of distal muscle weakness, but in the setting of early onset global weakness ...
Ruple S. Laughlin, Zhiyv Niu, Eric Wieben, Margherita Milone   +3 more
openaire   +3 more sources

Severe hyperCKaemia and decreased sarcolemmal dysferlin in VRK1-associated distal spinal muscular atrophy: a case report [PDF]

BMJ Neurology Open
Background Variants in the vaccinia-related kinase 1 (VRK1) gene have been linked to a spectrum of lower motor neuron disorders, typically characterised by distal muscle weakness and atrophy.
Roger Pamphlett, Matthew Silsby, Siobhan Kean, Himath Siriniwasa, Macken James Laurence Stirling   +4 more
doaj   +2 more sources

The Impact of Heritable Myopathies on Gastrointestinal Skeletal Muscle FunctionSummary [PDF]

Cellular and Molecular Gastroenterology and Hepatology
Among other contributions to gastrointestinal (GI) function, skeletal muscles regulate transit at both ends of the GI tract by providing propulsive forces for ingested nutrients and controlling the excretion of waste products. At the oropharynx, skeletal
Aishwarya Iyer, Madeline Alizadeh, Jennifer Megan Mariano, Aikaterini Kontrogianni-Konstantopoulos, Jean-Pierre Raufman   +4 more
doaj   +2 more sources

Repeat Expansions in PLIN4 Cause Autosomal Dominant Vacuolar Myopathy With Sarcolemmal Features [PDF]

Annals of Clinical and Translational Neurology
Objective We aim to describe and characterize two unrelated Spanish families suffering from an autosomal dominant autophagic vacuolar myopathy caused by repeat expansions in PLIN4.
Laura Llansó, Igor Stevanovski, Germán Morís, Roger Collet‐Vidiella, Alba Segarra‐Casas, Lidia González‐Quereda, Benjamín Rodríguez‐Santiago, Pia Gallano, Rodrigo Alvarez, Ana Vesperinas, Rosa Blanco, Beatriz San‐Millán, Carmen Navarro, Isabel Illa, Gianina Ravenscroft, Ira W. Deveson, Eduard Gallardo, Montse Olivé   +17 more
doaj   +2 more sources

Myopathy of distal lower limbs: the clinical variant of Miyoshi

Arquivos de Neuro-Psiquiatria, 2003
Miyoshi distal dystrophy is a rare myopathy characterized by an autosomal recessive pattern of inheritance and it is prevalent in Japan. Onset of disease is in early adult life with weakness and atrophy of the leg muscles.
Soares Cristiane N., Freitas Marcos R.G. de, Nascimento Osvaldo J.M., Silva Lenilda Ferreira da, Freitas Andréa R. de, Werneck Lineu C.   +5 more
doaj   +1 more source

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, Alexandra Oprisan, Amelia Dobrescu, Emilia Manole, Alexandra Eugenia Bastian   +4 more
doaj   +1 more source

Multisystem proteinopathy due to a homozygous p.Arg159His VCP mutation : a tale of the unexpected [PDF]

, 2020
ObjectiveTo assess the clinical, radiologic, myopathologic, and proteomic findings in a patient manifesting a multisystem proteinopathy due to a homozygous valosin-containing protein gene (VCP) mutation previously reported to be pathogenic in the ...
Azmi, A, Baets, J, Clemen, CS, De Bleecker, Jan, De Jonghe, P, De Ridder, W, Eichinger, L, Hofmann, A, Johnson, K, Maudsley, S, Schröder, R, Straub, V, Töpf, A   +12 more
core   +1 more source