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A Homozygous LAMA2 Mutation of c.818G＞A Caused Partial Merosin Deficiency in a Japanese Patient
A complete loss of merosin, which is encoded by LAMA2, causes congenital muscular dystrophy with leukoencephalopathy. Partial merosin deficiency can be caused not only by primarily LAMA2 mutations, but also secondarily by dystroglycanopathy. Although it can be molecularly diagnosed based on a geneti...
| Autores principales: | , , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
The Japanese Society of Internal Medicine
2017
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5891531/ https://www.ncbi.nlm.nih.gov/pubmed/29225264 http://dx.doi.org/10.2169/internalmedicine.9588-17 |