Article
Inherited myopathy plus: Double-trouble from rare neuromuscular disorders.
Neuromuscular disorders : NMD - 1 Feb 2023
Granger Andre, Beecher Grayson, Liewluck Teerin, Nicolau Stefan, Flanigan Kevin M, Laughlin Ruple S, Milone Margherita
Abstract excerpt
A rare disorder in the USA is one that affects <200,000 people, making inherited myopathies rare diseases. Increasing access to genetic testing has been instrumental for the diagnosis of inherited myopathies. Genetic findings, however, require clinical correlation due to variable phenotype, polygenic etiology of certain inherited disorders, and possible co-existing independent neuromuscular disorders. We searched...
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