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1385 news items
Research
A review of the involvement of Dynamin 2 in cancers sheds light on a promising therapeutic target
On 23/09/2021
Dynamin 2 (DNM2) is a large ubiquitously expressed GTPase, well known for its role in vesicle formation in endocytosis and intracellular membrane trafficking, also acting…
Research
Analysis of high-throughput digital images reveals distinct patterns of dystrophin expression in patients with dystrophinopathy
On 23/09/2021
Duchenne muscular dystrophy (DMD) is the most common neuromuscular disease in boys while Becker’s muscular dystrophy (BMD), a milder and less progressive allelic variant, is…
Research
Sexual dysfunction more common in myasthenia gravis
On 23/09/2021
Sexual dysfunction includes problems related to sexual activity: libido, stimulation, painful intercourse, reduced satisfaction and orgasmic disorders, etc. A Chinese observational study evaluated the frequency…
Research
Development of an animal model for BIN1-linked centronuclear myopathy provides proof of concept for the efficacy of an antisense oligonucleotide targeting DNM2
On 22/09/2021
The team from the Institute of Genetics and Molecular and Cellular Biology (Strasbourg) has developed a viable mouse model of centronuclear myopathy, defective of the…
Research
Myasthenia gravis, a very often painful disease
On 22/09/2021
Myasthenia gravis is not known to usually cause pain. However, 70% of patients feel it according to a study of 108 people followed for stable…
Research
Fatigue and sedentary lifestyle go hand in hand in myasthenia gravis
On 22/09/2021
Patients with myasthenia gravis often complain of a feeling of fatigue, sometimes severe and resistant at rest. A study based on self-administered questionnaires answered by…
Research
STEER: a trial of intrathecal Zolgensma in preparation in type II SMA
On 21/09/2021
Zolgensma (onasemnogene abeparvovec) is the first approved gene therapy treatment in SMA via intravenous administration. A new trial of the intrathecal administration gene therapy product…
Research
A study by the Institute of Myology has enhanced the phenotypic spectrum due to PLEKHG5 gene mutations
On 21/09/2021
In clinical practice, it is not always easy to distinguish between hereditary motor and sensory neuropathy (the prime example being Charcot-Marie-Tooth disease or CMT) and…
Research
First prospective study of tofacitinib in refractory dermatomyositis shows encouraging results
On 20/09/2021
Dermatomyositis is an inflammatory autoimmune disease that affects the skin and muscles, with vasculopathy. Like a genetic interferonopathy, it is accompanied by an overexpression of…
Research
A Chinese contribution to the debate on neonatal screening methods in Duchenne muscular dystrophy
On 16/09/2021
Duchenne muscular dystrophy (DMD) is one of the most common neuromuscular disorders. In children, it causes progressive muscular deficit with cardiorespiratory complications leading to premature…
Research
Point mutations in the PABPN1 gene in OPMD are no longer the domain of Europe
On 16/09/2021
Oculopharyngeal muscular dystrophy (OPMD) is a muscular disease of very late onset, most often after the age of fifty, and which mainly results in slowly…
Research
It’s not just sarcopenia after 65!
On 13/09/2021
Sarcopenia is defined as a slowly progressive loss of diffuse muscle mass and strength with age. It is the visible part of genuine neuromuscular disease…
Research
FKRP-related dystroglycanopathies: preclinical development of autologous cell therapy using a “universal” CRISPR / Cas9 approach
On 09/09/2021
Exon 4 of the FKRP gene alone contains the entire coding sequence for the protein. An American team has developed a CRISPR-Cas9 approach to replace…
Research
A Chinese study on the natural history of paediatric LAMA2 muscular dystrophy
On 08/09/2021
A Chinese multicentre study (covering 9 regions) describes the clinical course and phenotype-genotype correlations of a cohort of children with LAMA2 muscular dystrophy, 116 congenital forms with…
Research
Epilepsy: a central symptom in muscular dystrophies associated with LAMA2?
On 08/09/2021
An Italian team carried out a systematic review of the literature on the subject of “epilepsy and muscular dystrophies linked to LAMA2”, the results are…
Research
The prevalence of non-hereditary rod-shaped myopathy in adults is arguably underestimated
On 08/09/2021
The nemaline-myopathies are well known to pediatricians because of a revelation most often neonatal or in the first months of life. However, it is also…
Research
When the ERK1/2 pathway disrupts the sarcomere and impairs muscle strength
On 06/09/2021
Emery-Dreifuss muscular dystrophy is characterised by skeletal muscle loss and weakness, associated with dilated cardiomyopathy and cardiac conduction disorders. Although the genetic cause of this…
Research
Efgartigimod reaches phase III in myasthenia gravis
On 06/09/2021
A disorder affecting the neuromuscular junction, Efgartigimod reaches phase III in myasthenia gravis has benefited from relatively intensive therapeutic research for a rare disease, with…
Research
Symptom or not, family history or not, hyperCKemia in a girl should lead to search for a muscular dystrophy
On 03/09/2021
Hereditary neuromuscular diseases are a common cause of persistent hyperCKemia. Duchenne and Becker muscular dystrophies (DMD, DMB), linked to mutations in the DMD gene, are…
Research
A German study clarifies the risk and contraindications of cardiovascular drugs in Myasthenia gravis
On 03/09/2021
Myasthenia gravis is caused by the deleterious action of antibodies produced by the individual and directed against one or more components of the neuromuscular junction.…