Results 31 to 40 of about 182,656 (351)
Lower Limb Radiology of Distal Myopathy due to the S60F Myotilin Mutation [PDF]
, 2009 Distal myopathies are a clinically and genetically heterogenous group of disorders in which the distal limb musculature is selectively or disproportionately affected.
Birchall, Daniel +8 more
core +1 more source
GNE myopathy (Nonaka myopathy)
Анналы клинической и экспериментальной неврологии, 2019 GNE myopathy (Nonaka myopathy) is a rare recessive muscular dystrophy associated with the GNE gene, which is involved in sialic acid synthesis. Typical onset is in the third decade of life with distal weakness of the arms and legs, gradually progressing ...
Galina E. Rudenskaya +2 more
doaj +1 more source
Glycogenin is Dispensable for Glycogen Synthesis in Human Muscle, and Glycogenin Deficiency Causes Polyglucosan Storage [PDF]
, 2020 Glycogenin is considered to be an essential primer for glycogen biosynthesis. Nevertheless, patients with glycogenin-1 deficiency due to biallelic GYG1 (NM_004130.3) mutations can store glycogen in muscle.
Dellgren, Göran +10 more
core +1 more source
Centronuclear myopathy in labrador retrievers: a recent founder mutation in the PTPLA gene has rapidly disseminated worldwide [PDF]
, 2011 Centronuclear myopathies (CNM) are inherited congenital disorders characterized by an excessive number of internalized nuclei. In humans, CNM results from ~70 mutations in three major genes from the myotubularin, dynamin and amphiphysin families ...
Christophe Hitte +16 more
core +6 more sources
Current Opinion in Neurology, 2008 Myofibrillar myopathies represent a group of muscular dystrophies with a similar morphologic phenotype. They are characterized by a distinct pathologic pattern of myofibrillar dissolution associated with disintegration of the Z-disk, accumulation of myofibrillar degradation products, and ectopic expression of multiple proteins and sometimes congophilic
openaire +5 more sources
Inflammatory Myopathy as Early Manifestation of Gastric Cancer [PDF]
International Journal of Hematology-Oncology and Stem Cell Research, 2011 Inflammatory myopathy is a paraneoplastic syndrome. Inflammatory myopathy may be the first manifestation of underlying malignancy. It was reported in patients with colon cancer, breast cancer, ovarian cancer, lung cancer and non-Hodgkin lymphoma.
Nasim Valizadeh +2 more
doaj +2 more sources
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
Myopathy in patients taking atorvastatin: A pilot study
Indian Journal of Endocrinology and Metabolism, 2017 Aim: This study aims to investigate the prevalence and risk factors of statin-induced myopathy. Subjects and Methods: A total of 200 patients aged ≥ 40 years and taking atorvastatin 10 mg/day or more for at least 2 weeks were recruited in the study.
K Manoj, N Jain, S V Madhu
doaj +1 more source
Immune myopathies with perimysial pathology: Clinical and laboratory features [PDF]
, 2018 ObjectiveImmune myopathies with perimysial pathology (IMPP) have a combination of damage to perimysial connective tissue and muscle fiber necrosis, more prominent near the perimysium.
Bucelli, Robert C, Pestronk, Alan
core +2 more sources
CONGENITAL MYOPATHIES – NEMALINE MYOPATHIES [PDF]
Neuromuscular Disorders, 2021 V. Lehtokari +5 more
+8 more sources