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

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...

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Bibliographic Details
Main Authors: Emmanuelle Salort-Campana, Farzad Fatehi, Sadia Beloribi-Djefaflia, Stéphane Roche, Karine Nguyen, Rafaelle Bernard, Pascal Cintas, Guilhem Solé, Françoise Bouhour, Elisabeth Ollagnon, Sabrina Sacconi, Andoni Echaniz-Laguna, Thierry Kuntzer, Nicolas Levy, Frédérique Magdinier, Shahram Attarian
Format: Article
Language:English
Published: MDPI AG 2020-03-01
Series:International Journal of Molecular Sciences
Subjects:
facioscapulohumeral muscular dystrophy
fshd
phenotype
genotype
association
correlation
methylation
Online Access:https://www.mdpi.com/1422-0067/21/6/2221

Internet

https://www.mdpi.com/1422-0067/21/6/2221

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