Publications by authors named "F Leturcq"
Duchenne muscular dystrophy (DMD) and Becker muscular dystrophy (BMD) are the most common inherited neuromuscular diseases. Following the identification of a pathogenic causative variant in the DMD gene of a proband, potential carriers can be informed of their risk of having offspring with the disease. Germline mosaicism is a variant that is confined to the gonads that can be transmitted to offspring and is usually reported when a non-carrier of a DMD pathogenic variant has two or more offspring carrying the variant in question.
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- Researchers developed a mouse model to better understand NS progression by analyzing molecular profiles that match both mice and human patients.
- The study highlights the role of specific cytokines and proteases in disease severity and proposes a new signaling pathway involving tissue kallikrein-related proteases and IL-36, offering potential therapeutic targets.
Background And Aims: Emery-Dreifuss muscular dystrophy (EDMD) is caused by variants in EMD (EDMD1) and LMNA (EDMD2). Cardiac conduction defects and atrial arrhythmia are common to both, but LMNA variants also cause end-stage heart failure (ESHF) and malignant ventricular arrhythmia (MVA). This study aimed to better characterize the cardiac complications of EMD variants.
View Article and Find Full Text PDFBackground Chronic respiratory failure and heart involvement may occur in Duchenne muscular dystrophy. We aimed to assess the prognostic value of the right ventricular (RV) systolic dysfunction in patients with Duchenne muscular dystrophy. Methods and Results We studied 90 genetically proven patients with Duchenne muscular dystrophy from 2010 to 2019, to obtain respiratory function and Doppler echocardiographic RV systolic function.
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- The study compares the development and implementation of non-invasive prenatal diagnosis of monogenic diseases (NIPD-MD) with fetal aneuploidy screening, noting that NIPD-MD has had a slower growth due to commercial factors and the need for custom tests.
- A review of literature on NIPD-MD technologies reveals that it has been routinely offered in France, but is mainly used for excluding specific genetic variants rather than fully analyzing maternal variants.
- The complexity of analyzing fetal DNA from maternal circulation poses challenges, but advancements in screening solutions and a comprehensive understanding of ethical concerns can enhance prenatal care for families at risk of genetic diseases.