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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...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2022
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| Materias: | |
| 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 |