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Long term history of a congenital core-rod myopathy with compound heterozygous mutations in the Nebulin gene
Mutations in the Nebulin gene (NEB) may cause core-rod myopathy. The large size of the gene so far prevented inclusion of its routine analysis by didesoxy resequencing methodology in the diagnostic regime for muscular dystrophy cases. Here we report a 54-year-old female with a rare histological myop...
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| Publicat a: | Acta Myol |
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| Autors principals: | , , , , , , , |
| Format: | Artigo |
| Idioma: | Inglês |
| Publicat: |
Pacini Editore srl
2018
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| Matèries: | |
| Accés en línia: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6060425/ https://ncbi.nlm.nih.gov/pubmed/30057997 |
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