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1699 news items
Research
Atypical forms of inclusion myositis are not so exceptional
On 27/10/2022
Inclusion myositis (or IBM for Inclusion body myositis) belongs to the group of inflammatory myopathies of autoimmune origin. US researchers from the Mayo Clinic compiled…
Research
The value of myostatin measurement in the follow-up of inflammatory myopathies
On 27/10/2022
Measuring the activity of an inflammatory pathology such as inclusion myositis or autoimmune necrotizing myopathy is not easy. Researchers at the Institute of Myology in…
Research
How American families affected by Duchenne or Becker muscular dystrophy feel about newborn screening
On 25/10/2022
In order to better understand the preferences of families regarding newborn screening, a questionnaire was completed by 66 families affected by Duchenne or Becker muscular…
Research
DMD: positive results of Viltolarsen confirmed over two years
On 24/10/2022
May 2020, the publication of the results of the phase II clinical trial of Viltolarsen, in 16 boys with DMD aged 4 to 9 years,…
Research
Brain dystrophin restoration improves memory in mdx mice
On 24/10/2022
In a study published in May 2022, two French teams succeeded in partially restoring dystrophin in certain brain regions of adult mdx mice, an animal…
Research
A family observation of primary dysferlinopathy, an autosomal dominant genetic disorder
On 21/10/2022
Until now, dysferlin deficiencies reported in human pathology have all been inherited in the autosomal recessive mode. A few heterozygous individuals have been reported with…
Research
A natural history study to better understand certain myopathies of mitochondrial origin
On 20/10/2022
Italian researchers studied 117 patients with mitochondrial pathologies with muscle expression. Three groups were formed (purely muscular mitochondriopathy, progressive external ophthalmoplegia [PEO] and mixed) The…
Research
The concept of ‘actionable’ genes applied to myopathies
On 19/10/2022
A gene responsible for a given disease is said to be ‘actionable’ if it has direct or indirect therapeutic applications. This new concept in the…
Research
Should carpal tunnel or cubital tunnel syndrome in CMT 1A and HNPP neuropathy be operated on?
On 19/10/2022
Nerve involvement in CMT 1A and HNPP neuropathy (tomacular or pressure palsy neuropathy) may increase the risk of carpal tunnel or cubital tunnel syndrome and…
Events
Research
The work of two researchers from the Institute awarded at the WMS
On 17/10/2022
Two researchers from the institute were awarded prizes for their work at the WMS 2022 conference held in Halifax, Canada, and online from 11 to…
Events
M&M’s – Muscle Monday Seminar – 17 November – Pascale Bomont (France)
On 17/10/2022
Intermediate filaments: from mechanisms in giant axonal neuropathy to therapeutic perspectives for IF-pathies– November 17th, 2022 – 12:00 – 13:00 Pascale Bomont, PhD (ERC group leader, INSERM…
Research
A new type of complication related to SMA gene therapy
On 17/10/2022
Italian clinicians report the case of a three-year-old child with SMA type 1 who developed hemophagocytic lymphohistiocytosis (HLH) three days after an intravenous injection of…
Research
Low levels of anti-AAV9 and not age-dependent in adults with SMA
On 14/10/2022
German clinicians determined the level of anti-AAV9 antibodies in 69 adults with SMA type II and III. Using a threshold greater than 1/50 as an…
Research
A new lead in the treatment of MELAS syndrome
On 14/10/2022
The MELAS syndrome is a mitochondrial disease with a partly neuromuscular expression and is related, in the vast majority of cases, to a point mutation…
Research
A broad natural history study in myotonic dystrophies
On 13/10/2022
The American Myotonic Dystrophy Registry is, after the French DM-scope database, one of the most important registries for Steinert disease (DM1) and myotonic dystrophy type…
Research
The first French series of patients with HINT1 neuropathy suggests a wider phenotypic and genotypic range
On 13/10/2022
Neuropathies or neuromyotonias related to the HINT1 gene are of recent discovery (2012). A group of French experts gathered under the aegis of FILNEMUS, the French…
Research
A comparative study of two muscle biopsy techniques
On 12/10/2022
Australian rheumatologists conducted a study to compare the feasibility and diagnostic performance of two techniques of muscle tissue sampling: one based on open biopsy, usually…
Research
Myotubular myopathy: valproic acid improves mouse models and leads to the identification of a specific epigenetic signature
On 12/10/2022
Screening of 1280 molecules on zebrafish models of X-linked myotubular myopathy (XLMTM) showed that histone deacetylase (HDAC) inhibitors such as valproic acid or trichostatin A…
Research
DMB: EDG-5506 moves to phase II
On 11/10/2022
Following the success of phase Ia and Ib, Edgewise Therapeutics announced in a July 2022 press release the launch of phase II to evaluate EDG-5506, an…
Events
Research
Experts from the Institute at WMS 2022
On 10/10/2022
The 27th World Muscle Society International Congress (WMS) will be held from October 11 to 15, 2022 in Halifax, Canada, as well as in a virtual version…