Blog Archives

A research team from the Institute of Myology, led by Denis Furling (Myotonic Dystrophy, Physiopathology & Biotherapy Team, Myology Centre for Research), has taken part in a collaborative work coordinated by Nicolas Charlet (Institute of Genetics and Molecular and Cellular Biology, Strasbourg) and Masanori Takahashi (Osaka, Japan), which enabled to bring to light the key … [Read more]

In this study, the authors aimed to analyse electromyographic activity, masticatory efficiency, muscle thickness, and bite force of 40 males aged 4-15 years, 20 with Duchenne muscular dystrophy (DMD) and 20 healthy age-, height-, and weight-matched controls. All boys underwent electromyography and ultrasonography of temporalis, masseter, and sternocleidomastoid muscles during postural control of the jaw, … [Read more]

Collagen VI myopathies are genetic disorders due to mutations in collagen 6 A1, 2, and 3 genes, ranging from the severe Ullrich congenital muscular dystrophy to the milder Bethlem Myopathy, which is recapitulated by collagen VI null (Col6a1-/-) mice. Abnormalities in mitochondria and autophagic pathway have been proposed as pathogenic causes of collagen VI myopathies, … [Read more]

Limb girdle muscular dystrophies types 2B (LGMD2B) and 2D (LGMD2D) are degenerative muscle diseases caused by mutations in the dysferlin and alpha-sarcoglycan genes, respectively. Using patient-derived induced pluripotent stem cells (iPSC), the dysferlin nonsense mutation c.5713C>T; p.R1905X and the most common alpha-sarcoglycan mutation, missense c.229C>T; p.R77C, were corrected by single-stranded oligonucleotide-mediated gene editing, using the … [Read more]

Spinal Muscular Atrophy (SMA) is a group of autosomal recessive neurodegenerative diseases differing in their clinical outcome, characterized by the specific loss of spinal motor neurons, caused by insufficient level of SMN protein expression. No cure is presently available for SMA. While physical exercise might represent a promising approach for alleviating SMA symptoms, the lack … [Read more]

Spring 2016 The Genethon International Postdoctoral Program 2016 is now open. Positions are intended for highly motivated scientists who wish to pursue their career in the research and development of therapies for rare diseases. Postdoctoral research positions are available for a period of three years (37-41 k€ annual gross income depending on qualifications and years … [Read more]

The collagen ColQ anchors acetylcholinesterase (AChE) in the synaptic cleft of the neuromuscular junction (NMJ). It also binds MuSK and perlecan/dystroglycan, 2 signaling platforms of the postsynaptic domain. Mutations in ColQ cause a congenital myasthenic syndrome (CMS) with AChE deficiency. Due to the fact that the absence of AChE does not fully explain the complexity … [Read more]

Limb girdle muscular dystrophy 2A is due to loss-of-function mutations in the Calpain 3 (Capn3) gene. Previous data from this group suggest that CAPN3 helps to maintain the integrity of the triad complex in skeletal muscle. In Capn3knock-out mice (C3KO), Ca2+release and Ca2+/calmodulin kinase II (CaMKII) signaling are attenuated. It was hypothesized that calpainopathy may … [Read more]

This longitudinal mixed methods study aimed to assess the perceived effect of salbutamol in adult patients with spinal muscular atrophy (SMA) and to evaluate the usefulness of WHO Disability Assessment Schedule II (WHODAS-II) and Fatigue Severity Scale (FSS) to measure it. Ten patients were interviewed and filled in WHODAS-II and FSS questionnaires to assess disability … [Read more]