Results 41 to 50 of about 183,642 (350)
Physicians' Experiences as Patients with Statin Side Effects: A Case Series. [PDF]
, 2017 Physicians are among those prescribed statins and therefore, subject to potential statin adverse effects (AEs). There is little information on the impact of statin AEs on physicians affected by them. We sought to assess the character and impact of statin
Golomb, Beatrice Alexandra +2 more
core +2 more sources
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +1 more source
GYG1: A distal myopathy with polyglucosan bodies
JIMD Reports, 2020 Mutations in glycogenin‐1 (GYG1) cause an adult‐onset polyglucosan body myopathy. We report here a patient presenting with late‐onset distal myopathy. We wish to highlight this rare clinical phenotype of GYG1‐related myopathy and the histological clues ...
Stefan Nicolau +4 more
doaj +1 more source
Nuclear matrix protein 2 antibody-positive adult dermatomyositis: a case report and review of the literature [PDF]
, 2020 Dermatomyositis is a clinically heterogenous inflammatory myopathy with unique cutaneous features. Myositis-specific antibodies can aid in diagnosis and anticipation of patient prognosis.
Cartron, Alexander M +3 more
core
New Aspects of Thromboangiitis obliterans (von Winiwarter-Buerger's Disease) [PDF]
, 1984 The existence of thromboangiitis obliterans as a clinical entity has been a matter of debate for many years. In contrast to other immunovasculitides there is no organ involvement while peripheral vessels are affected.
Berlit, Peter +3 more
core +1 more source
Ectopy on a single 12‐lead ECG, incident cardiac myopathy, and death in the community [PDF]
, 2017 BackgroundAtrial fibrillation and heart failure are 2 of the most common diseases, yet ready means to identify individuals at risk are lacking. The 12-lead ECG is one of the most accessible tests in medicine.
Alonso, Alvaro +11 more
core +3 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
Mazen M, Dimachkie, Richard J, Barohn
openaire +2 more sources
SNUPN‐Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Nuria Muelas +18 more
wiley +1 more source
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
Pregnancy in GNE myopathy patients: a nationwide repository survey in Japan
Orphanet Journal of Rare Diseases, 2020 Background GNE myopathy is an autosomal recessive adult-onset distal myopathy. While a few case reports have described the progression of GNE myopathy during pregnancy, to our knowledge, none have examined disease progression after delivery or obstetric ...
Wakako Yoshioka +8 more
doaj +1 more source