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A novel LMNA mutation identified in a Japanese patient with LMNA-associated congenital muscular dystrophy
LMNA-associated congenital muscular dystrophy (L-CMD) is a severe form of muscle laminopathy. LMNA encodes lamin A, which an intermediate filament protein that attaches to the inner membrane of the nuclear envelope. We performed sequence analysis based on our original targeted gene panel system for...
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| Foilsithe in: | Hum Genome Var |
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| Main Authors: | , , , , , , , |
| Formáid: | Artigo |
| Teanga: | Inglês |
| Foilsithe: |
Nature Publishing Group UK
2018
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| Ábhair: | |
| Rochtain Ar Líne: | https://ncbi.nlm.nih.gov/pmc/articles/PMC6054619/ https://ncbi.nlm.nih.gov/pubmed/30083363 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/s41439-018-0018-6 |
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