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muscular dystrophy facioscapulohumeral/hypoxia
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[Facioscapulohumeral muscular dystrophy with sinus dysfunction].
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We report a 47-year-old man with facioscapulohumeral muscular dystrophy (FSHD) presenting with sinus dysfunction. He became unable to roll over and stand up at the age of 42, but he could still walk. Facial muscle involvement, scapular winging, asymmetrical involvement, funnel chest, and the absence
Applying genome-wide CRISPR-Cas9 screens for therapeutic discovery in facioscapulohumeral muscular dystrophy.
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The emergence of CRISPR-Cas9 gene-editing technologies and genome-wide CRISPR-Cas9 libraries enables efficient unbiased genetic screening that can accelerate the process of therapeutic discovery for genetic disorders. Here, we demonstrate the utility of a genome-wide CRISPR-Cas9 loss-of-function
Sniff nasal inspiratory pressure and sleep disordered breathing in childhood neuromuscular disorders.
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The ease of sniff nasal inspiratory pressure testing may extend application of respiratory muscle assessment to younger and cognitively-impaired children. We sought to quantify sniff nasal inspiratory pressure in childhood neuromuscular disorders, and to correlate this measure with conventional
Clinical applications of creatine supplementation on paediatrics.
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Creatine plays a central role in energy metabolism and is synthesized in the liver, kidney and pancreas. In healthy patients, it is transported via the blood stream to the muscles, heart and brain with high and fluctuating energy demands by the molecule creatine transporter. Creatine, although
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