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Facioscapulohumeral Muscular Dystrophy: More Complex than it Appears

Facioscapulohumeral muscular dystrophy (FSHD) has been classified as an autosomal dominant myopathy, linked to rearrangements in an array of 3.3 kb tandemly repeated DNA elements (D4Z4) located at the 4q subtelomere (4q35). For the last 20 years, the diagnosis of FSHD has been confirmed in clinical...

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Detalles Bibliográficos
Autores principales: G, Ricci, M, Zatz, R, Tupler
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Bentham Science Publishers 2014
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4264243/
https://www.ncbi.nlm.nih.gov/pubmed/25323867
http://dx.doi.org/10.2174/1566524014666141010155054