Blog Archives
RYR3 – a novel gene associated with a myopathy with nemaline bodies?
Nemaline myopathy has been associated with mutations in twelve genes to date. However, for some patients diagnosed with nemaline myopathy, definitive mutations are not identified in the known genes, suggesting there are other genes involved. This study describes compound heterozygosity for rare variants in RYR3 in one such patient. Clinical examination of the patient at … [Read more]
Development of a prognostic score in DM1 – Interview with Dr. K. Wahbi
Dr. Karim Wahbi, a cardiologist in the Cardiology Department at the Cochin Hospital and the Institute of Myology, led a study in which medical data from nearly 1,300 myotonic dystrophy type 1 (DM1) patients were analysed over 10 years. This allowed to develop and validate a clinical tool useful for healthcare professionals. Myotonic dystrophy type … [Read more]
Gene therapy via trans-splicing for LMNA-related Congenital Muscular Dystrophy
This study investigated the potential of Lmna-mRNA repair by spliceosome-mediated RNA trans-splicing as a therapeutic approach for LMNA-related congenital muscular dystrophy. This gene therapy strategy leads to reduction of mutated transcript expression for the benefit of corresponding wild-type (WT) transcripts. The authors developed 5′-RNA pre-trans-splicing molecules containing the first five exons of Lmna and targeting … [Read more]
Phenotypic and genotypic studies of ALS cases in ALS-SMA families
Amyotrophic lateral sclerosis (ALS) and spinal muscular atrophy (SMA) are the most frequent motor neuron disorders in adulthood and infancy, respectively. There is a growing literature supporting common pathophysiological patterns between those disorders. One important clinical issue for that is the co-occurrence of both diseases within a family. Here, the authors aimed to collect … [Read more]
Spinal muscular atrophy : AveXis enters into licensing agreement with Genethon
AveXis, Inc. and Genethon today announced they have entered into an exclusive, worldwide license agreement for in vivo gene therapy delivery of AAV9 vector into the central nervous system (CNS) for the treatment of spinal muscular atrophy (SMA). AveXis, Inc. and Genethon today announced they have entered into an exclusive, worldwide license agreement for in … [Read more]
Acquisition of a high-performance confocal microscope at the Institute – Interview with B. Cadot
Bruno Cadot, a researcher in Marc Bitoun’s team at the Myology Centre for Research, has successfully acquired a new confocal microscope for the institute. Eighteen months elapsed between the first applications for funding and installation. Since its inauguration last month, researchers and clinicians have been lining up to use it. What happened during those … [Read more]
Frequency of the c.130dupG CHRNE mutation in Brazilian patients with CMS
The most common causes of congenital myasthenic syndromes (CMS) are CHRNE mutations, and some pathogenic allelic variants in this gene are especially frequent in certain ethnic groups. In the southern region of Brazil, a study found the c.130dupG CHRNE mutation in up to 33% of families with CMS. Here, the authors aimed to verify … [Read more]
Correction of glycogen storage disease type III with AAV vectors
Glycogen storage disease type III (GSDIII) is an autosomal recessive disorder caused by a deficiency of glycogen-debranching enzyme (GDE), which results in profound liver metabolism impairment and muscle weakness. To date, no cure is available for GSDIII and current treatments are mostly based on diet. Here, the authors describe the development of a mouse … [Read more]
The FSHD functional composite outcome measure
The authors of this study have developed an evaluator-administered functional facioscapulohumeral muscular dystrophy composite outcome measure (FSHD-COM) comprised of patient-identified areas of functional burden for future clinical trials. The FSHD-COM includes functional assessment of the legs, shoulders and arms, trunk, hands, and balance/mobility. In a prospective observational study of 41 FSHD participants, they determined … [Read more]
DMD care considerations update: Part 1
Since the publication of the Duchenne muscular dystrophy (DMD) care considerations in 2010, multidisciplinary care of this severe, progressive neuromuscular disease has evolved. In conjunction with improved patient survival, a shift to more anticipatory diagnostic and therapeutic strategies has occurred, with a renewed focus on patient quality of life. In 2014, a steering committee … [Read more]
