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1385 news items
Research
A look back at the 4th International Meeting on Laminopathies
On 23/05/2023
The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases,…
Research
Towards better recognition of AINM in children
On 22/05/2023
On the occasion of the diagnosis of a case of autoimmune necrotizing myopathy (AINM) in one of their patients, two Japanese physicians provide an update…
Research
Anti-SAE autoantibodies in dermatomyositis
On 22/05/2023
Dermatomyositis (DM) is a rare autoimmune family of diseases in which the muscles and skin are affected by inflammation. They can occur in childhood or…
Research
Cognitive profile and treatment in SMA type I
On 19/05/2023
A study reveals for the first time the effects of three available treatments for SMA on the cognitive profile of infants with SMA type I:…
Research
Role of caveolae in T-tubule formation in the muscle cell – Interview with Eline Lemerle and Stéphane Vassilopoulos
On 19/05/2023
Eline Lemerle completed her thesis* under the supervision of Stéphane Vassilopoulos, in Marc Bitoun’s team (Muscle Organization & Therapy of Dominant Centronuclear Myopathy) at the…
Research
Is dystrophin in plasma a new biomarker for DMD?
On 17/05/2023
European researchers have demonstrated the presence of dystrophin in the plasma of patients with Duchenne muscular dystrophy (DMD): Using two antibodies specifically directed against dystrophin,…
Research
Base editing, under investigation in SMA
On 16/05/2023
Two teams investigated the base editing technique to convert the SMN2 gene into the SMN1 gene: in cell models of SMA, the exchange of the…
Research
NOTCH2NLC gene study in a large cohort of patients with CMT disease
On 15/05/2023
Charcot-Marie-Tooth disease (CMT) is very heterogeneous both phenotypically and genetically. Japanese researchers studied 1783 CMT patients without a molecular signature and applied a sequencing technique…
Research
The relevance of genome editing coupled with cell therapy in the treatment of calpainopathies
On 12/05/2023
German researchers have developed a cell therapy coupled with a CRISP-Cas9-based genome editing technique in a transgenic mouse with the c.550delA founder mutation in the…
Research
A reliable biomarker to predict response to gene therapy in SMA
On 12/05/2023
French clinicians from the Filnemus network report the results of a prospective study aimed at measuring the predictive value of muscle action potential amplitude (CMAP)…
Research
Analysis of the largest cohort of patients with anoctaminopathy
On 12/05/2023
An international multicentre study reports the results of the analysis of the characteristics of 234 patients with ANO5-related myopathy (limb-girdle muscular dystrophy type R12 or…
Research
Certain types of dermatomyositis are thought to protect against cancer risk
On 11/05/2023
Dermatomyositis (DM) is generally a disease with an increased risk of developing neoplasia, hence the need for regular monitoring. Researchers from two US centres studied…
Research
An ENMC workshop on dystrophinopathies in women
On 11/05/2023
In May 2022, the European Neuromuscular Center (ENMC) brought together about 20 experts and patient representatives from all over the world to review the pathophysiology,…
Research
Ultrasound useful to assess respiratory effort in MFM patients: a case study
On 11/05/2023
Myofibrillar myopathies (MFMs) are a small but fairly heterogeneous group of neuromuscular diseases characterised, at the histopathological level, by the accumulation of protein products which…
Research
Towards a methodological flexibility of clinical trials in DMD?
On 10/05/2023
An international consortium of researchers and clinicians involved in therapeutic trials in Duchenne muscular dystrophy (DMD) is calling for a methodological revision based on the…
Research
Two major breakthroughs in autoimmune necrotizing myositis
On 09/05/2023
Autoimmune necrotizing myositis (AINM) is a recently described entity related to the deleterious effect of autoantibodies directed against an enzyme, HMG CoA reductase, most often…
Research
A review of the literature profiles scleromyositis as a disease in itself rather than a simple overlap between myositis and scleroderma
On 09/05/2023
A French-Canadian team analysed some sixty publications in order to better define the diagnostic criteria for scleromyositis, an emerging entity. Their review highlights in particular…
Research
Reducing diagnostic error in mitochondrial diseases with the COMMI project
On 09/05/2023
The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to : create a cohort…
Research
Reducing diagnostic error in mitochondrial diseases with the COMMI project
On 09/05/2023
The French network of 11 mitochondrial disease diagnostic laboratories MITODIAG has announced the launch of the COMMI project, which aims to : create a cohort…
Research
The challenge of measuring quality of life in DMD
On 09/05/2023
A Swedish physician specialising in health economics has examined the issue of quality of life in Duchenne muscular dystrophy (DMD), a component that is becoming…