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1655 news items
Research
A fourth gene involved in a form of oculo-pharyngo-distal myopathy, OPDM type 4
On 06/04/2022
Chinese researchers have identified a new gene responsible for an ultra-rare form of oculo-pharyngo-distal myopathy. It joins three other genes, LRP12, GIPC1 and NOTCH2NLC, which…
Research
An ENMC workshop on anesthesia in NMD
On 05/04/2022
No less than 28 researchers or clinicians (including three French) and two patient representatives from 15 countries participated in the 259th workshop of the European…
Research
LGMD R1: a study reports clinical and genetic data in Indian patients and confirms the characteristics usually described
On 05/04/2022
• The retrospective study involves 72 participants (34 men and 38 women) with LGMD R1 (calpainopathy). • Patients have the following characteristics: the disease manifests…
Research
One thousand patients were genetically diagnosed with FSH in China between 2001 and 2020
On 04/04/2022
In two decades, the Center for Genetic Diagnosis of Facioscapulohumeral Muscular Dystrophy (FSHD or FSH) in China (Fujian Neuromedical Centre) has collected and followed data…
Research
SMA type 1: impairment of bulbar functions persists under nusinersen even though motor functions progress
On 04/04/2022
The team from the London Neuromuscular Center studied the evolution of oral food intake capacities measured by the Pediatric Functional Oral Intake Scale (p-FOIS), in…
Research
Myology 2022 and mitoNice 2022: programs are online!
On 01/04/2022
You can now find the program of the two major scientific congresses organized by the AFM-Téléthon next September in Nice on the dedicated site: Myology…
Events
Release of the 90th newsletter from the Institute – March 2022
On 31/03/2022
Thanks to the mobilization of donors, volunteers, families, partners, all united during this great celebration of solidarity for the benefit of the fight against rare…
Research
Involvement of DNA from mitochondria proven in a family with scapulo-peroneal syndrome
On 31/03/2022
For the first time, and thanks to a family with several affected people, Canadian and Finnish researchers have provided evidence of the involvement of mitochondrial…
Research
Not all SMCHD1 gene variants give an FSH-compatible phenotype
On 30/03/2022
Distinct mutations of the SMCHD1 gene are responsible for a form of facioscapulohumeral myopathy (FSH type 2) but also for an ultra-rare syndrome comprising abnormalities…
Events
My thesis in 180 seconds: Louison Lallemant, 2022 Public prize winner – Interview
On 29/03/2022
Louison Lallemant is a doctoral student in the group of Mario Gomes-Pereira and Geneviève Gourdon within the REDs team led by Denis Furling and Geneviève…
Research
Farnesol is effective in laboratory models of CMT1A
On 29/03/2022
• Korean researchers studied the effects of farnesol in Charcot-Marie-Tooth disease type 1A (CMT1A): • They showed that the molecule enhances myelination of axons by Schwann…
Research
International guidelines for diseases related to the VCP gene
On 29/03/2022
On the initiative and with the support of the patient association concerned (Cure VCP Disease), a group of American experts worked on the development of…
Research
Echocardiography and renin-aldosterone interaction as predictors of death in COVID-19
On 28/03/2022
COVID-19 has caused millions of deaths primarily caused by an inappropriate systemic inflammatory response to SARS-CoV-2 and progression to refractory hypoxemia, leading to acute respiratory…
Research
Muscle cells of patients with sporadic ALS secrete neurotoxic vesicles
On 28/03/2022
Amyotrophic lateral sclerosis (ALS) is characterized by motor neuron (MN) degeneration leading to its death. While the cause of MN death is unknown, one hypothesis…
Research
Review of the advances in understanding the pathophysiology of autoimmune disorders in NMJ
On 25/03/2022
Autoimmune disorders of the neuromuscular junction (NMJ) are characterized in particular by fatigue and muscle weakness. While there are many immunosuppressive treatments, there is no…
Research
New type of histological abnormalities in congenital nemaline myopathies
On 24/03/2022
French clinicians report, in five patients with congenital rod myopathy (also called nemaline), histological lesions in the form of dense protein masses: none of the…
Research
Steinert disease: Mexiletine is not effective for walking but for myotonia
On 24/03/2022
Steinert disease (DM1) is one of the most common neuromuscular diseases in adults. It affects both muscles and others organs such as heart, eye, endocrine…
Research
Phenylbutyrate restores dysferlin localization and membrane repair in cellular and animal models of dysferlinopathies
On 18/03/2022
Missense mutations account for 30 to 40% of abnormalities responsible for dysferlinopathy. They generate abnormal, misfolded and unstable dysferlins, which can result in an absence…
Research
Calpain 1 gene involved in spinal muscular atrophy type 4 unrelated to SMN1
On 16/03/2022
Whole genome sequencing of a brother and sister with an adult-onset form of SMA without mutation in the SMN1 gene revealed a compound heterozygous mutation…
Research
Splicing efficiency of minor introns in a mouse model of SMA
On 15/03/2022
Spinal muscular atrophy (SMA) is a devastating neurodegenerative disease caused by mutations in the SMN1 gene resulting in a decreased expression of the ubiquitous SMN…