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)...

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Detalles Bibliográficos
Autores principales: Yamamoto-Shimojima, Keiko, Ono, Hiroaki, Imaizumi, Taichi, Yamamoto, Toshiyuki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Nature Publishing Group UK 2020
Materias:
Data Report
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

Internet

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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