Results 111 to 120 of about 988,052 (165)

Immunogenetics of Idiopathic Inflammatory Myopathies: The Role of HLA Genes Within and Beyond the Ancestral Haplotype. [PDF]

Genes (Basel)
Gumkowska-Sroka O, Kotyla K, Kotyla P.
europepmc   +1 more source

Navigating gastrointestinal challenges in genetic myopathies: Diagnostic insights and future directions. [PDF]

World J Methodol
Al-Beltagi M, Saeed N, Bediwy A, Elbeltagi R.   +3 more
europepmc   +1 more source

Excellent response to high-dose Riboflavin in Brown-Vialetto-Van Laere syndrome: A case report. [PDF]

Medicine (Baltimore)
Ali A, Abdullah A, Masood HMY, Saleem U, Talha M, Ghafoor LA, Sharma MK.   +6 more
europepmc   +1 more source

Metabolic Myopathies

, 2018
Metabolic myopathies are caused by defects in the metabolic processes of energy storage and utilisation, and can present with exercise intolerance, fatigue, muscle pain and weakness. Metabolic myopathies are rare and can be difficult to diagnose. However, the clinical presentation can be similar to, and thus mimic, both the idiopathic inflammatory ...
Lilleker, James, Roberts, Mark
core   +13 more sources

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Metabolic Myopathies

Seminars in Neurology, 2015
Metabolic myopathies encompass a group of rare disorders arising from defects in glycogen breakdown (glycogenolysis), glucose utilization (glycolysis), fatty acid transport and oxidation, and energy production along the mitochondrial respiratory chain.
Perry B Shieh
exaly   +3 more sources

Metabolic and Mitochondrial Myopathies

Neurologic Clinics, 2014
Metabolic and mitochondrial myopathies encompass a heterogeneous group of disorders that result in impaired energy production in skeletal muscle. Symptoms of premature muscle fatigue, sometimes leading to myalgia, rhabdomyolysis, and myoglobinuria, typically occur with exercise that would normally depend on the defective metabolic pathway.
Ronald Haller
exaly   +3 more sources