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SALORT CAMPANA , Emmanuelle

Last name: SALORT CAMPANA

First name: Emmanuelle

October 15, 2013 (v1)

Journal article

Metadata-only

Dysregulation of 4q35- and muscle-specific genes in fetuses with a short D4Z4 array linked to facio-scapulo-humeral dystrophy

Broucqsault, Natacha Morere, Julia Gaillard, Marie-Cécile

Facio-scapulo-humeral dystrophy (FSHD) results from deletions in the subtelomeric macrosatellite D4Z4 array on the 4q35 region. Upregulation of the DUX4 retrogene from the last D4Z4 repeated unit is thought to underlie FSHD pathophysiology. However, no one knows what triggers muscle defect and when alteration arises. To gain further insights...

Uploaded on: February 28, 2023
2015 (v1)

Journal article

Metadata-only

Low penetrance in facioscapulohumeral muscular dystrophy type 1 with large pathological D4Z4 alleles: a cross-sectional multicenter study

Salort Campana, Emmanuelle Nguyen, Karine Bernard, Rafaelle

Background: Facioscapulohumeral muscular dystrophy type 1(FSHD1) is an autosomal dominant disorder associated with the contraction of D4Z4 less than 11 repeat units (RUs) on chromosome 4q35. Penetrance in the range of the largest alleles is poorly known. Our objective was to study the penetrance of FSHD1 in patients carrying alleles ranging...

Uploaded on: February 28, 2023