Results 101 to 110 of about 314,455 (204)

Novel phenotypic variant in the MYH7 spectrum due to a stop-loss mutation in the C-terminal region: a case report

BMC Medical Genetics, 2017
Background Defects of the slow myosin heavy chain isoform coding MYH7 gene primarily cause skeletal myopathies including Laing Distal Myopathy, Myosin Storage Myopathy and are also responsible for cardiomyopathies.
Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó, Béla Melegh   +6 more
doaj   +1 more source

Diagnostic Performance of the Strength‐Duration Test for Bedside Screening of Critical Illness Polyneuropathy and/or Myopathy: A Prospective, Cross‐Sectional Study

Muscle &Nerve, Volume 74, Issue 4, Page 1212-1219, October 2026.
ABSTRACT Introduction/Aims Critical illness polyneuropathy and/or myopathy (CIP/CIM) is a major cause of weakness in the intensive care unit (ICU). The availability of conventional electrodiagnostic testing may be limited. Alternative electrophysiologic methods, including the strength‐duration test (SDT) and the stimulus electrodiagnosis test (SET ...
José Roberto de Deus Macedo, Emerson Fachin‐Martins, Marilia Mendes Rodrigues, Marta Rodrigues de Carvalho, Rubens Nelson Morato Fernandez, Paulo Eugênio Silva   +5 more
wiley   +1 more source

Complications and outcomes of standing flank versus ventral midline laparotomy for equine nephrosplenic entrapment

Equine Veterinary Education, Volume 38, Issue 10, Page e736-e743, October 2026.
Summary Background Nephrosplenic entrapment (NSE) is a common surgical colic in horses. Ventral midline laparotomy (VML) under general anaesthesia (GA) is the standard approach, whereas standing flank laparotomy (SFL) is an alternative approach for surgical correction. However, direct comparisons between these approaches are lacking.
V. Santalucia, A. J. Tatz, B. Daeem, R. Dahan, M. Quint, G. Kelmer   +5 more
wiley   +1 more source

The inflammatory myopathies

, 2013
The inflammatory myopathies are a group of rare conditions that usually present in general practice as a patient with muscle weakness and/or an elevated serum creatine kinase (CK) level.
De Jager, JP
core  

Treatment of idiopathic Inflammatory myopathies

, 2014
Idiopathic inflammatory myopathies are a group of rare, disorders with the primary features of muscle weakness and inflammatory lesions identified in skeletal muscle specimens.
Bercovici, Einav
core  

Welander Distal Myopathy-Associated TIA1 E384K Mutation Disrupts Stress Granule Dynamics Under Distinct Stress Conditions

Biology
Cellular stress triggers the formation of diverse RNA–protein aggregates, which can be associated with physiological responses, pathological conditions, or even detrimental outcomes.
Beatriz Ramos-Velasco, José Alcalde, José M. Izquierdo   +2 more
doaj   +1 more source

Protein‐extending ACTN2 frameshift variants cause variable myopathy phenotypes by protein aggregation

Annals of Clinical and Translational Neurology
Objective The objective of the study is to characterize the pathomechanisms underlying actininopathies. Distal myopathies are a group of rare, inherited muscular disorders characterized by progressive loss of muscle fibers that begin in the distal parts ...
Johanna Ranta‐aho, Kevin J. Felice, Per Harald Jonson, Jaakko Sarparanta, Cédric Yvorel, Ines Harzallah, Renaud Touraine, Lynn Pais, Christina A. Austin‐Tse, Vijay S. Ganesh, Melanie C. O'Leary, Heidi L. Rehm, Michael K. Hehir, Sub Subramony, Qian Wu, Bjarne Udd, Marco Savarese   +16 more
doaj   +1 more source

Congenital myopathies: clinical phenotypes and new diagnostic tools

, 2017
Congenital myopathies are a group of genetic muscle disorders characterized clinically by hypotonia and weakness, usually from birth, and a static or slowly progressive clinical course.
Anna Rubegni, Rosanna Trovato, Claudio Bruno, Carlo Minetti, Guja Astrea, Sara Lenzi, the Italian Network on Congenital Myopathies, Denise Cassandrini, Jacopo Baldacci, Chiara Fiorillo, Filippo M. Santorelli   +10 more
core   +1 more source

Congenital Myopathy Due to RyR1 Gene Mutation in a Newborn Masquerading as a Consequence of Hypoxic-ischemic Encephalopathy

Indian Pediatrics Case Reports
Background: Congenital myopathies may be a cause of prolonged and persistent hypotonia and weakness in a newborn, which may be overlooked as a neurological consequence of hypoxic-ischemic encephalopathy.
Yamini Patial, Rohit Anand
doaj   +1 more source

Imaging of Myopathies

, 2017
This article clarifies the current role of MR imaging in the assessment of myopathies. Typical MR imaging findings are discussed for different forms of myopathies, including idiopathic inflammatory myopathies, muscular dystrophies, and congenital ...
Gustav Andreisek, Andreisek, Gustav, Filli, Lukas, Sebastian Winklhofer, Del Grande, Filippo, Filippo Del Grande, Winklhofer, Sebastian, Lukas Filli   +7 more
core   +1 more source