Case report: Unusual episodic myopathy in a patient with novel homozygous deletion of first coding exon of MICU1 gene

We present a patient with unusual episodes of muscular weakness due to homozygous deletion of exon 2 in the MICU1 gene. Forty-three patients from 33 families were previously described with homozygous and compound heterozygous, predominantly loss of function (LoF) variants in the MICU1 gene that lead...

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Detalles Bibliográficos
Autores principales: Sharova, Margarita, Skoblov, Mikhail, Dadali, Elena, Demina, Nina, Shchagina, Olga, Konovalov, Fedor, Ampleeva, Maria, Sharkova, Inna, Kutsev, Sergey
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2022
Materias:
Neurology
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679209/
https://www.ncbi.nlm.nih.gov/pubmed/36425804
http://dx.doi.org/10.3389/fneur.2022.1008937

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9679209/
https://www.ncbi.nlm.nih.gov/pubmed/36425804
http://dx.doi.org/10.3389/fneur.2022.1008937

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