Type 1 FSHD with 6–10 Repeated Units: Factors Underlying Severity in Index Cases and Disease Penetrance in Their Relatives Attention

Molecular defects in type 1 facioscapulohumeral muscular dystrophy (FSHD) are caused by a heterozygous contraction of the D4Z4 repeat array from 1 to 10 repeat units (RUs) on 4q35. This study compared (1) the phenotype and severity of FSHD1 between patients carrying 6–8 vs. 9–10 RUs, (2) the amount...

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Detalles Bibliográficos
Autores principales: Salort-Campana, Emmanuelle, Fatehi, Farzad, Beloribi-Djefaflia, Sadia, Roche, Stéphane, Nguyen, Karine, Bernard, Rafaelle, Cintas, Pascal, Solé, Guilhem, Bouhour, Françoise, Ollagnon, Elisabeth, Sacconi, Sabrina, Echaniz-Laguna, Andoni, Kuntzer, Thierry, Levy, Nicolas, Magdinier, Frédérique, Attarian, Shahram
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2020
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139460/
https://www.ncbi.nlm.nih.gov/pubmed/32210100
http://dx.doi.org/10.3390/ijms21062221

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7139460/
https://www.ncbi.nlm.nih.gov/pubmed/32210100
http://dx.doi.org/10.3390/ijms21062221

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