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Congenital myopathy caused by a novel missense mutation in the CFL2 gene
Nemaline myopathy and myofibrillar myopathy are heterogeneous myopathies that both comprise early-onset forms. We present two sisters from a consanguineous Iraqi Kurdish family with predominant axial and limb girdle weakness. Muscle biopsies showed features of both nemaline myopathy and myofibrillar...
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| Main Authors: | , , , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2012
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3377783/ https://ncbi.nlm.nih.gov/pubmed/22560515 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.nmd.2012.03.008 |
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