Blog Archives
The Myotubular Trust call for projects
The Myotubular Trust is launching its 7th call for projects. This call is open to international and innovative projects. The Myotubular Trust is looking to fund further projects that will help find a cure and/ or a treatment for any of the three types of myotubular myopathy (congenital X-linked recessive; congenital autosomal recessive; autosomal dominant). … [Read more]
Release of the latest newsletter from the Institute
Welcome to the 58th edition of our Newsletter! As the 30th Telethon draws near, why not take part in a great initiative: show your support by sharing your story or your supportive message on the Generation Telethon website? You can also display the Generation Telethon logo on your Facebook or Twitter account. We look forward … [Read more]
Operation 1,000 researchers: over 1000 requests for assistance
The operation “1000 researchers” 2016 will be held from 3 to 30 November. Since September 7, teachers in secondary schools have had the opportunity to enrol on a dedicated platform, and more than 1,000 requests for assistance have been solicited. Since September 7, teachers in secondary schools have had the opportunity to enrol on a … [Read more]
10 and 11 October, Science Fair at the Institute
This year, the Institute is participating in the 25th Science Fair and is organising a course on muscle: “MUSCLE IN ALL ITS STATES”. The event consists of workshops for all age groups and will be held in the Babinski building on Monday, October 10 from 14:00 to 17:00 and Tuesday, October 11th from 9:00 to … [Read more]
Nuclear poly(A)-binding protein aggregates misplace a pre-mRNA outside of SC35 speckle causing its abnormal splicing
A short abnormal polyalanine expansion in the polyadenylate-binding protein nuclear-1 (PABPN1) protein causes oculopharyngeal muscular dystrophy (OPMD). Mutated PABPN1 proteins accumulate as insoluble intranuclear aggregates in muscles of OPMD patients. While the roles of PABPN1 in nuclear polyadenylation and regulation of alternative poly(A) site choice have been established, the molecular mechanisms which trigger pathological defects … [Read more]
EXONDYS 51™ (eteplirsen) authorised in the US
EXONDYS 51™ (eteplirsen), a therapy aimed at skipping exon 51 of the DMD gene involved in Duchenne muscular dystrophy (DMD), has received accelerated approval in the United States. Sarepta Therapeutics announced on Monday, September 19, 2016, that the US drug agency (Food and Drug Administration or FDA) has granted marketing authorisation (MA) for EXONDYS 51™ … [Read more]
Identification of potential underlying risk factors for premature death in Duchenne muscular dystrophy: focus on North East England.
This retrospective case note reviewed mortality in DMD patients in North East England over the last 10 years. It aimed to identify potential underlying risk factors for premature death and improve clinical care. Two groups of patients were identified: patients who died from underlying cardiac and/or respiratory failure (group 1) and patients who died unexpectedly … [Read more]
Launch of the 30th Telethon in the Baltard Pavilion
On Saturday, September 17, nearly 1,500 people visited the Baltard Pavillon to attend the national launch of Telethon 2016. This day was an opportunity to discover or rediscover the ambassador families of the 30th Telethon. Volunteers and researchers, including Antoine Muchir from the Institute of Myology, always true to his commitment, were with the families … [Read more]
Cystatin C is associated with cardiac dysfunction in DMD patients
Patients with Duchenne muscular dystrophy (DMD) develop dilated cardiomyopathy and are at risk for kidney injury. Creatinine based estimated glomerular filtration rate (eGFR) is limited by low muscle mass with low serum creatinine levels in DMD. Here, the authors assessed the relationship between cardiac function, modified Schwartz eGFR and cystatin C eGFR in patients with … [Read more]
Myotonic dystrophy type 1 and compliance with non-invasive ventilation
This study evaluated compliance with non-invasive ventilation in patients with myotonic dystrophy type 1 and identified predictors of cessation at 5 years in a cohort of patients followed in a specialist center for Neuromuscular Diseases in France. Mechanical ventilation in these patients poses a very strong challenge to caregivers. Factors predicting relative compliance were identified … [Read more]
