Support our Foundation of Myology project
1385 news items
Research
Characterisation of distal digenic myopathy linked to TIA1 and SQSTM1
On 15/11/2024
The description of four new French cases of Welander-type distal myopathy and 20 cases from a review of the literature confirms the digenic nature of…
Research
Towards a better understanding of genotype/phenotype correlations in DMD
On 15/11/2024
American clinicians studied a large cohort of children followed at the only neuromuscular consultation in Cincinnati (USA) for Duchenne muscular dystrophy (DMD): 555 patients were…
Research
A case of immune-mediated necrotizing myopathy mimicking FSHD
On 14/11/2024
Swiss clinicians report the clinical and histological data of a 72-year-old adult patient whose clinical presentation initially suggested facioscapulohumeral muscular dystrophy (FSHD): the patient suffered…
Research
Improving diagnosis and prognosis in DM1 and other short repeat expansions diseases with LRS – Interview with Stéphanie Tomé
On 14/11/2024
Stéphanie Tomé is a researcher in the Gourdon group within the Repeat Expansions & Myotonic Dystrophy (REDs) team at the Institute’s Center of Research in…
Research
Nerve imaging can help differentiate between acquired and inherited neuropathies
On 14/11/2024
New Zealand researchers used ultrasound to measure the cross-sectional area of the sural and fibular nerves in order to differentiate between acquired and hereditary nerve…
Research
Targeted inhibition of ORAI1 reduces tubular aggregates in mice
On 08/11/2024
Tubular aggregate myopathy may be due to overactivation of Store Operated Ca2+ Entry (SOCE) as a result of a gain-of-function variant in the STIM1 or…
Research
Changes in screening criteria for late-onset Pompe disease in China
On 08/11/2024
An initial screening campaign for late-onset Pompe disease (LOPD) in China in 2022 showed, as a warning sign, a predominance of respiratory involvement and less…
Research
A promising ex vivo gene therapy for Pompe disease
On 07/11/2024
International researchers have developed a lentivirus-based gene therapy which they have tested in a mouse model of Pompe disease: the lentiviral vector is used to…
Research
Mavacamten for 4 weeks does not improve the condition of mice models of nebulin-related nemalin myopathy
On 06/11/2024
In muscle fibers from individuals with nebulin-related nemaline myopathy (NEB-NM) and in NEB-NM mouse models, the proportion of myosin in the disordered relaxed state and…
Research
Loss of function of JPH1, which encodes junctophilin, causes congenital myopathy
On 05/11/2024
Four individuals from unrelated consanguineous families, two of European origin, one of Khmer origin and one of Middle Eastern origin all presented with congenital myopathy…
Research
Riboflavin transporter deficiency: the importance of treating early, even if it doesn’t solve everything
On 04/11/2024
A retrospective study describes a population of 11 children with riboflavin transporter deficiency (RTD) type 2, all carriers of mutations in the SLC52A2 gene, followed…
Research
Cerebral abnormalities in dysferlinopathies?
On 31/10/2024
Slovakian and Austrian clinicians report the case of a family in which dysferlin deficiency was identified at the same time as structural and functional cerebral…
Research
Towards a new therapeutic approach to cardiovascular complications in progeria?
On 30/10/2024
Hutchinson-Gilford syndrome (HGPS or progeria) is an autosomal dominant disease caused by a mutation in the LMNA gene, coding for type A lamins, which results…
Research
Thrombotic microangiopathy: a formidable complication of gene therapy
On 30/10/2024
A multidisciplinary group of international experts has examined one of the complications that can arise during systemic gene therapy protocols, particularly in children with spinal…
Research
A multi-factorial approach to urinary disorders in DMD
On 29/10/2024
Turkish physiotherapists report on their experience in assessing symptoms, disorders and signs of the lower urinary tract in children with Duchenne muscular dystrophy (DMD): 45…
Research
Clinical and biological markers to differentiate between ocular and generalised forms of myasthenia gravis
On 28/10/2024
Danish clinicians reviewed 350 records of patients with ocular or generalised forms of autoimmune myasthenia : clinical, electrophysiological and serological data were compiled and compared,…
Research
Towards a better assessment of complex cases of titinopathy
On 28/10/2024
The large size of the TTN gene encoding titin and the existence of numerous isoforms make it difficult to interpret genomic variants. An international consortium…
Research
Belgian family confirms possible link between HLA-DRB1*11:01 and statin-induced myositis
On 25/10/2024
In Belgium, a father and daughter : developed autoimmune necrotising myopathy with HMGCR autoantibodies a few years apart, following treatment with statins; are both carriers…
Research
Beware of phytotherapies in dermatomyositis
On 24/10/2024
American clinicians have studied the prevalence and risk-taking among patients suffering from cutaneous autoimmune diseases who use herbal treatments: These included dermatomyositis and systemic lupus…
Research
Positive feedback on multidisciplinary management of interstitial lung disease in France
On 23/10/2024
Patients with certain inflammatory myopathies are at risk of developing severe interstitial lung disease. French clinicians working in the FAI2R and RespiFil healthcare networks report…