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Nebulin (NEB) mutations in a childhood onset distal myopathy with rods and cores uncovered by next generation sequencing
Recessive nebulin (NEB) mutations are a common cause of nemaline myopathy (NM), typically characterized by generalized weakness of early-onset and nemaline rods on muscle biopsy. Exceptional adult cases with additional cores and an isolated distal weakness have been reported. The large NEB gene with...
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| Päätekijät: | , , , , , , , , , , , |
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| Aineistotyyppi: | Artigo |
| Kieli: | Inglês |
| Julkaistu: |
Nature Publishing Group
2013
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| Aiheet: | |
| Linkit: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3798838/ https://ncbi.nlm.nih.gov/pubmed/23443021 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2013.31 |
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