Blog Archives
A new natural history of muscle-expressing laminopathies
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of the LMNA gene: 26 patients took part in this study, which lasted two years. the usual follow-up parameters were used as the basis for the analysis (NSAA score, timed tests, … [Read more]
Myotubular myopathy: are cardiac compensatory mechanisms at work?
The team at the Institut de Génétique et de Biologie Moléculaire et Cellulaire (IGBMC) in Strasbourg has explored the non-neuromuscular effects of myotubular myopathy in the Mtm1-/y mouse model: no functional or morphological abnormalities were found in the liver; alongside the disturbances in muscle development, inflammation, cell adhesion and oxidative phosphorylation found in skeletal muscle, … [Read more]
Correlation between mutated protein domain and clinical phenotype in CMT X1
A French retrospective analysis studied genotype/phenotype correlations in 275 adults with Charcot-Marie-Tooth X1 (CMT X1) disease managed in the 13 largest neuromuscular disease reference centres. Patients were classified into three categories according to the protein domain affected by the mutation in the GJB1 gene encoding connexin 32: transmembrane domain (25 variants for 72 patients), extracellular … [Read more]
ENTRY-DM: a European network to train a new generation of young DM1 researchers – Interview with Mario Gomes-Pereira
ENTRY-DM is an MSCA* multidisciplinary doctoral network aimed at developing oligonucleotide-based therapies and preparing clinical trials in myotonic dystrophy, through advanced doctoral training. It brings together 11 European laboratories and 18 international partners with expertise in disciplines as varied as medicinal chemistry, genetics, multi-omics, bioengineering and neuropsychology. Interview with the project coordinator, Mario Gomes-Pereira, a … [Read more]
A new case of myopathy secondary to digenismus
Russian researchers have published a study of a sibling with a diagnosis of myopathy linked jointly to the SPRK3 and TTN genes: two brothers aged 6 and 10 presented with a congenital myopathy that was very early onset but not very progressive. Their whole exome genotyping revealed a pathogenic variant in the gene encoding titin … [Read more]
Promising phase IIb results with sonlicromanol in mitochondrial myopathies caused by the m.3243A>G mutation
Positive results have been published from a phase IIb clinical trial evaluating the drug candidate sonlicromanol in mitochondrial diseases caused by the m.3243A>G mutation. The trial was conducted in two stages: A first, randomised, controlled part in which 27 patients were divided into three groups, depending on whether they received 50 mg, 100 mg sonlicromanol … [Read more]
ERN EURO-NMD webinar, 13 Feb.: Prof. Thomas Harbo (Denmark) & Dr. Emilien Delmont (France)
Multifocal motor neuropathy (MMN): diagnosis, treatment and update on biomarkers Thursday 13 February 2025 – 16:00 – 17:00 Paris time Prof. Thomas Harbo (Aarhus University, Denmark) & Dr. Emilien Delmont (AP-HM Hôpital de la Timone, Marseille, France) > + info Organized by EURO-NMD in collaboration with ERN-RND.
Three clinical trials underway in France for Steinert disease
Clinical research into Steinert disease (or myotonic dystrophy type 1 – DM1) is currently benefiting from a new positive impetus, in which France is playing a full part: Promising new results from the phase I/II ACHIEVE trial evaluating DYNE-101 have been announced in a press release. They confirm the trends presented in previous press releases, … [Read more]
Cochrane meta-analysis in preparation on therapies for RYR1-related myopathies
An international consortium of clinicians led by a South African neuropaediatrician has presented a protocol designed to analyse the impact of different therapeutic interventions in muscle-expressing diseases associated with abnormalities of the RYR1 gene: the study will be based on the Cochrane methodology for meta-analysis of the literature on the subject, 7 experts have been … [Read more]
M&M’s – Muscle Monday Seminar – 10 Feb. – Corinne Albiges Rizo (France)
Signaling intertwining and receptor partitioning between integrins and BMP2 receptors to govern cell migratory strategies Monday 10 February 2025 – from 12 to 1pm Corinne Albiges Rizo (Institut Albert Bonniot, Grenoble, France) Hosted by Catherine Coirault More information on the presentation and the speaker On prior registration for people outside the Institute of Myology: medecine-umrs974-myologie@sorbonne-universite.fr … [Read more]
