The prediction of the development of diabetic myopathy in children with type 1 diabetes mellitus
Zdorovʹe Rebenka, 2021 Background. The purpose was to determine the frequency, risk factors of the development of diabetic myopathy in children with type 1 diabetes mellitus (DM1), and to create a mathematical model for predicting the formation of pathology.
O.Ye. Pashkova, N.I. Chudova
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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
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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
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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
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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
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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
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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
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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
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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
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