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DROUIN-GARRAUD , Valérie

Last name: DROUIN-GARRAUD

First name: Valérie

2016 (v1)

Journal article

Metadata-only

Gender as a Modifying Factor Influencing Myotonic Dystrophy Type 1 Phenotype Severity and Mortality: A Nationwide Multiple Databases Cross-Sectional Observational Study

Dogan, Celine de Antonio, Marie Hamroun, Dalil

BACKGROUND: Myotonic Dystrophy type 1 (DM1) is one of the most heterogeneous hereditary disease in terms of age of onset, clinical manifestations, and severity, challenging both medical management and clinical trials. The CTG expansion size is the main factor determining the age of onset although no factor can finely predict phenotype and...

Uploaded on: December 4, 2022
June 2012 (v1)

Journal article

Metadata-only

Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy

Böhm, Johann Biancalana, Valérie Dechene, Elizabeth T

Centronuclear myopathy (CNM) is a genetically heterogeneous disorder associated with general skeletal muscle weakness, type I fiber predominance and atrophy, and abnormally centralized nuclei. Autosomal dominant CNM is due to mutations in the large GTPase dynamin 2 (DNM2), a mechanochemical enzyme regulating cytoskeleton and membrane...

Uploaded on: February 28, 2023