A Mosaic Mutation in the LAMA2 Gene in a Case of Merosin-deficient Congenital Muscular Dystrophy

Merosine deficient congenital muscular dystrophy is one of the most common forms of congenital muscular dystrophy. This disease is caused by a primary deficiency or a functionally inactive form of the protein merosin in muscle tissue. The type of inheritance of this disease is autosomal recessive. D...

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Detalles Bibliográficos
Autores principales: Chausova, P. A., Ryzhkova, O. P., Rudenskaya, G. E., Chernykh, V. B., Shchagina, O. A., Polyakov, A. V.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Frontiers Media S.A. 2021
Materias:
Genetics
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586452/
https://www.ncbi.nlm.nih.gov/pubmed/34777456
http://dx.doi.org/10.3389/fgene.2021.686800

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8586452/
https://www.ncbi.nlm.nih.gov/pubmed/34777456
http://dx.doi.org/10.3389/fgene.2021.686800

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