Blog Archives
A focus on complex cases of autosomal dominant titinopathies
An international consortium of researchers coordinated by a team of geneticists from Montpellier and including researchers and clinicians from the Institute is reporting the clinical and biological data of patients diagnosed with primary titinopathy on the basis of more sophisticated investigations (including the RNA-seq technique): 17 patients corresponding to eight families were included in the … [Read more]
Largest cohort of primary carnitine deficiency in the Faroe Islands treated with L-carnitine
A 10-year follow-up of the world’s largest cohort of 139 patients with primary carnitine deficiency, located in the Faroe Islands, where the incidence is particularly high, and treated with L-carnitine supplementation, revealed that : the vast majority of patients are alive and well (others died naturally, unrelated to the disease), a third continue to experience … [Read more]
Nusinersen in Neuromuscular Disease Reference Centers
Clinicians from the French network of neuromuscular disease specialists followed a cohort of 37 children treated with nusinersen (Spinraza) between the ages of 2 months and 3 years for three years. The motor functions of these patients, now aged between 3 and 6, improved. Motor development was greater in children with three copies of the … [Read more]
Fatty acid beta-oxidation disorders: a French retrospective study is optimistic despite the lack of treatment
Analysis of retrospective data from 44 adults with fatty acid beta-oxidation deficiency followed up in six French centres of reference for rare neuromuscular or metabolic diseases showed that : fourteen had carnitine palmitoyl transferase 2 (CPT2) deficiency, nine had multiple acyl-CoA (MAD) deficiency, 13 had long-chain fatty acid dehydrogenase (VLCAD) deficiency, 3 had long-chain 3-hydoxyacyl-CoA … [Read more]
RhoA is a key regulator of myoblast fusion
Satellite cells (SCs) are adult muscle stem cells that are recruited when muscle homeostasis is disturbed. The RhoA GTPase is an important signalling enzyme involved in the rearrangement of the actin cytoskeleton and in the differentiation of myoblast lines. A team from the Institut Cochin in collaboration with researchers from the Institute’s Myology Research Centre … [Read more]
An update of European recommendations on the use of radiological contrast products in myasthenia gravis
Myasthenia gravis is included in the “precautions for use” of iodinated contrast products because of a possible worsening of the symptoms of the disease caused by their injection. After analysing the sometimes contradictory results of three retrospective studies, the Contrast Products Safety Committee of the European Society of Urogenital Radiology updated its recommendations on the … [Read more]
CMT 4J: heterogeneous clinical pictures where electrophysiology is not always sufficient for diagnosis
Mutations in the FIG4 gene are responsible not only for Charcot-Marie-Tooth (CMT) 4J disease, but also for amyotrophic lateral sclerosis and Parkinson disease. In this article, involving clinicians from the Institut de Myologie, published in November 2023, of the eight patients described, six had pure CMT and two had CMT associated with Parkinson disease; three … [Read more]
A review of serious digestive complications in adults with DMD
Based on four emblematic individual cases of young adults with Duchenne muscular dystrophy (DMD), a British team studied and reviewed life-threatening digestive complications: DMD patients were between 24 and 28 years old, three out of four had never received long-term corticosteroid therapy, all had minor digestive problems such as constipation and/or dysphagia, depending on the … [Read more]
More gastrointestinal and genitourinary disorders than expected in FSHD
The results of a survey on facioscapulohumeral myopathy (FSHD) carried out by the FSHD Society among 701 adult respondents highlighted : difficulties swallowing food at least once a week for 16% of them and the need, for 25%, to adapt the way they eat to get round these problems, constipation, bladder problems, abdominal pain, etc. … [Read more]
The journey of Gillian Butler-Browne and Vincent Mouly with François Gros
In this article, Gillian Butler-Browne and Vincent Mouly look back on their scientific and human “journey” with François Gros. The journey began for Gillian Butler-Browne in 1978, when she began working on muscle at the Institut Pasteur, in the laboratory of François Gros. There, she characterized the expression profile of different myosin isoforms during human … [Read more]
