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Novel LAMA2 variants identified in a patient with white matter abnormalities
Comprehensive genomic analysis was performed in a patient with mild psychomotor developmental delay, elevated creatine kinase, and white matter abnormalities. The results revealed biallelic pathogenic variants in the gene related to merosin-deficient congenital muscular dystrophy, NM_000426.3(LAMA2)...
Autores principales: | Yamamoto-Shimojima, Keiko, Ono, Hiroaki, Imaizumi, Taichi, Yamamoto, Toshiyuki |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Nature Publishing Group UK
2020
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248065/ https://www.ncbi.nlm.nih.gov/pubmed/32509318 http://dx.doi.org/10.1038/s41439-020-0103-5 |
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