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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)...
| Autores principales: | , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Frontiers Media S.A.
2023
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| Materias: | |
| 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 |