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FATEHI , Farzad

Last name: FATEHI

First name: Farzad

March 2020 (v1)

Journal article

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

Salort-Campana, Emmanuelle Fatehi, Farzad Beloribi-Djefaflia, Sadia

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 of methylation in different D4Z4 regions...

Uploaded on: December 4, 2022
2019 (v1)

Journal article

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Expanding the importance of HMERF titinopathy: new mutations and clinical aspects

Palmio, Johanna Léonard-Louis, Sarah Sacconi, Sabrina

OBJECTIVE: Hereditary myopathy with early respiratory failure (HMERF) is caused by titin A-band mutations in exon 344 and considered quite rare. Respiratory insufficiency is an early symptom. A collection of families and patients with muscle disease suggestive of HMERF was clinically and genetically studied.METHODS: Altogether 12 new families...

Uploaded on: December 4, 2022