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Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity
OBJECTIVE: To identify the genetic and epigenetic defects in patients presenting with a facioscapulohumeral (FSHD) clinical phenotype without D4Z4 contractions on chromosome 4q35 tested by linear gel electrophoresis (LGE) and Southern blot analysis. DESIGN AND PATIENTS: We studied 16 patients displa...
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| Main Authors: | , , , , , , , , |
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| Formato: | Artigo |
| Idioma: | Inglês |
| Publicado em: |
2011
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| Assuntos: | |
| Acesso em linha: | https://ncbi.nlm.nih.gov/pmc/articles/PMC3560331/ https://ncbi.nlm.nih.gov/pubmed/21984748 https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1136/jmedgenet-2011-100101 |
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