myotonia/obesitas

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Non-alcoholic fatty liver disease later diagnosed as myotonic dystrophy

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Background: Myotonic dystrophy (MD) is sometimes accompanied by metabolic/endocrine disorders, including dyslipidemia, central obesity, and hypogonadism. Due to considerable individual differences in the severity and progression of

Two Adult Siblings With Myotonic Dystrophy Type 1 With Different Phenotypes Presenting With Chronic Respiratory Insufficiency and Sleep Apnea Syndrome.

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Myotonic dystrophy type 1 (DM1) is an autosomal dominant disease characterized by progressive muscle weakness and myotonia along with multiple organ system involvements. Overall, DM1 patients show reduced life expectancy, mainly due to respiratory or cardiac abnormalities. Chronic respiratory

Is bariatric surgery effective in the treatment of the neurological motor deficit syndromes?

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BACKGROUND Persons who suffer from neurological motor deficit syndromes, such as multiple sclerosis, postpolio syndrome, cerebral palsy, myotonia or stroke, are at a particular disadvantage if they are also morbidly obese. There appears to be little in the medical literature describing the role of

Proteomic identification of biomarkers of skeletal muscle disorders.

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Disease-specific biomarkers play a central diagnostic and therapeutic role in muscle pathology. Serum levels of a variety of muscle-derived enzymes are routinely used for the detection of muscle damage in diagnostic procedures, as well as for the monitoring of physical training status in sports

CBS domains form energy-sensing modules whose binding of adenosine ligands is disrupted by disease mutations.

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CBS domains are defined as sequence motifs that occur in several different proteins in all kingdoms of life. Although thought to be regulatory, their exact functions have been unknown. However, their importance was underlined by findings that mutations in conserved residues within them cause a

Proteomic profiling of muscle fibre type shifting in neuromuscular diseases.

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Mature skeletal muscles are composed of a complex assembly of slow-twitching, fast-twitching and hybrid fibres. Since muscle fibres exhibit a high degree of cellular plasticity, changed physiological conditions or pathophysiological disturbances have generally a substantial impact on fibre

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study.

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BACKGROUND Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no

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