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
Acute myopathy secondary to oral steroid therapy in a 49-year-old man: a case report
Journal of Medical Case Reports, 2011 Introduction Acute myopathy caused by oral corticosteroids is rare. We present a case of myopathy occurring after two doses of methylprednisolone. Typically, acute steroid myopathy occurs with therapy using intravenous corticosteroids at high doses ...
Larson Eric, Khan Muhammad A
doaj +1 more source
Progressive Structural Defects in Canine Centronuclear Myopathy Indicate a Role for HACD1 in Maintaining Skeletal Muscle Membrane Systems [PDF]
, 2016 Mutations in HACD1/PTPLA cause recessive congenital myopathies in humans and dogs. Hydroxyacyl-coA dehydratases are required for elongation of very long chain fatty acids, and HACD1 has a role in early myogenesis, but the functions of this striated ...
Agrawal +92 more
core +3 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
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
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.
Ali Eishi Oskuie +2 more
doaj +1 more source
Dominant BIN1-related centronuclear myopathy (CNM) revealed by lower limb myalgia and moderate CK elevation [PDF]
, 2015 We report a BIN1-related CNM family with unusual clinical phenotype. The proband, a 56-year-old man suffered of lower limbs myalgia since the age of 52.
Antonini, Giovanni +8 more
core +1 more source
Whole-genome sequencing and the clinician: a tale of two cities [PDF]
, 2014 Clinicians are faced with unprecedented opportunities to identify the genetic aetiologies of hitherto molecularly uncharacterised conditions via the use of high-throughput sequencing.
A. R. Foley +21 more
core +2 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
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