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Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene by Margarita Sharova, Mikhail Skoblov, Elena Dadali, Nina Demina, Olga Shchagina, Fedor Konovalov, Maria Ampleeva, Inna Sharkova, Sergey Kutsev
Published 2022-11-01
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Complex Transposon Insertion as a Novel Cause of Pompe Disease by Igor Bychkov, Galina Baydakova, Alexandra Filatova, Ochir Migiaev, Andrey Marakhonov, Nataliya Pechatnikova, Ekaterina Pomerantseva, Fedor Konovalov, Maria Ampleeva, Vladimir Kaimonov, Mikhail Skoblov, Ekaterina Zakharova
Published 2021-10-01
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