Striated muscle hamartomas are rare, benign malformations of disorganised but mature striated muscle fibres. This case report presents a congenital striated muscle hamartoma (CSMH) in a primary school ...
Cipaglucosidase alfa/miglustat is an investigational therapy that is not yet approved by any regulatory agency. The posters will be made available on the Amicus website following their respective ...
ClC-1 is a chloride ion channel specifically expressed in skeletal muscle cells that normally dampens muscle fiber excitability and is involved in regulating muscle fiber excitability during exercise.
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