Case report: Novel frameshift mutation in LAMA2 gene causing congenital muscular dystrophy type 1A

Congenital muscular dystrophy type 1A (CMD1A) is a rare autosomal recessive disorder caused by mutations in the LAMA2 gene. CMD1A is characterized by peripheral hypotonia and muscle weakness from the first months of life, cerebral white matter abnormalities, and elevated creatine phosphokinase (CPK)...

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Detalles Bibliográficos
Autores principales: Diaz-Lombana, Natalia, Diaz-Ordoñez, Lorena, Gutierrez-Medina, Juan David, Pachajoa, Harry
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2023
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
https://www.ncbi.nlm.nih.gov/pubmed/37415604
http://dx.doi.org/10.3389/fgene.2023.1158350

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10319579/
https://www.ncbi.nlm.nih.gov/pubmed/37415604
http://dx.doi.org/10.3389/fgene.2023.1158350

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