Results 91 to 100 of about 116,069 (304)

Congenital myopathies

European Journal of Paediatric Neurology, 2001
Most congenital myopathies have been defined on account of the morphological findings in enzyme histochemical preparations. In effect, the diagnosis of this group of diseases continues to be made on the histological pattern of muscle biopsies. However, progress has been made in elucidating the molecular genetic background of several of the congenital ...
A, Bornemann, H H, Goebel
openaire   +5 more sources

Comparison of whole-body muscle imaging findings between GNE myopathy and other young adult-onset hereditary myopathies.

PLoS ONE
ObjectivesPrevious muscle imaging studies of GNE myopathy are limited to the lower extremities. This study aimed to use whole-body MRI to differentiate between GNE myopathy and other young adult-onset hereditary myopathies.Materials and methodsThis ...
Pattira Boonsri, Suppakorn Yamutai, Pramot Tanutit, Jirakit Sattayapornpipat, Chariyawan Charalsawadi, Prut Koonalintip, Pornchai Sathirapanya, Suwanna Setthawatcharawanich, Rattana Leelawattana, Pat Korathanakhun   +9 more
doaj   +1 more source

Free left ventricular wall rupter in a newborn. [PDF]

, 2015
Free left ventricular wall rupture is very rare but mostly fatal complication of acute myocardial infarction in the elderly. Without the presence of congenital heart disease, preceding cardiac surgery or an isolated ventricular diverticulum ...
Wagner, Bendicht Peter, Hutter, Damian, Wagner, B., Kreiter, Bianca, Hutter, Damian Marco, Kadner, A, Riedel, T., Pfammatter, Jean-Pierre, Riedel, Thomas, Kadner, Alexander   +9 more
core  

Association between statin-associated myopathy and skeletal muscle damage

, 2009
BACKGROUND: Many patients taking statins often complain of muscle pain and weakness. The extent to which muscle pain reflects muscle injury is unknown. METHODS: We obtained biopsy samples from the vastus lateralis muscle of 83 patients.
Draeger, A, Mohaupt, MG, Sanchez-Freire, V, Monastyrskaya, K, Babiychuk, EB, Hoppeler, H, Karas, RH, Breil, F, Iyer, L   +8 more
core   +1 more source

The EXPLAIN Study: Exploring Arthrogryposis Multiplex Congenita in Adults in Norway — A Description of Demographic, Medical, and Neurological Findings

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Arthrogryposis Multiplex Congenita (AMC) encompasses several hundred conditions with diverse genetic, pathophysiological, and clinical origins. The overarching EXPLAIN study explores underlying causes and implications of AMC and represents the largest clinical cohort of adults with AMC reported to date.
My Vuong Hermansen, Kristin Ørstavik, Unni Steen, Mathias Toft, Cathrine Brunborg, Lena Lande Wekre   +5 more
wiley   +1 more source

AASLD practice guidance on drug, herbal, and dietary supplement–induced liver injury

, 2022
Hepatology, EarlyView.
Robert J. Fontana, Iris Liou, Adrian Reuben, Ayako Suzuki, M. Isabel Fiel, William Lee, Victor Navarro   +6 more
wiley   +1 more source

Evidence-based treatment of metabolic myopathy

Chinese Journal of Contemporary Neurology and Neurosurgery, 2014
Objective To evaluate the current treatments and possible adverse reactions of metabolic myopathy, and to develop the best solution for evidence-based treatment.
Yan LIN, Wen-wu ZHANG, Ling LIU
doaj  

Signal Recognition Particle Myopathy With Cardiac Manifestations in Rheumatoid Arthritis

Annals of Internal Medicine: Clinical Cases
Immune-mediated necrotizing myopathy is a rare inflammatory myopathy characterized by progressive muscle weakness and potentially severe systemic complications.
Priya Sunkara, Deepesh Yadav, Murat Gokden, Vinisha Kota   +3 more
doaj   +1 more source

One‐step generation of heritable mitochondrial DNA multiplex‐engineered rats using DddA‐derived cytosine base editor

Animal Models and Experimental Medicine, EarlyView.
We established that mixed DdCBE microinjection is an efficient, heritable, and precise strategy for generating multiplex mtDNA mutant rats. This advancement significantly expands the utility of DdCBEs for mitochondrial disease modeling, providing a robust platform for exploring the pathogenic mechanisms of complex mtDNA mutations and developing ...
Xu Zhang, Keru Li, Lei Tan, Wei Chen, Shan Gao, Chenyang Liu, Shuo Pan, Jiayue He, Ning Liu, Gefan Wan, Wei Dong, Weining Kong, Bin Shen, Xiaolong Qi, Yuanwu Ma   +14 more
wiley   +1 more source

Glucocorticoid-induced myopathy: Pathophysiology, diagnosis, and treatment

Indian Journal of Endocrinology and Metabolism, 2013
Glucocorticoid-induced myopathy is the most common type of drug-induced myopathy. Nearly 60% of patients with Cushing′s syndrome have muscle weakness.
Anu Gupta, Yashdeep Gupta
doaj   +1 more source