Blog Archives
Robust and accurate detection and sizing of repeats within the DMPK gene using a novel TP-PCR test
Myotonic dystrophy type 1 is a multisystem disorder caused by the expansion of a trinucleotide repeat in the DMPK gene. In this study the researchers evaluated the performance of the FastDM1TM DMPK sizing kit in myotonic dystrophy type 1 testing. This commercially available triplet repeat-primed PCR based kit was validated using reference and clinical samples. … [Read more]
Institute seminar – 16 September – Cesare Furlanello, Ph.D. (Italy)
The challenge of reproducibility of AI algorithms: from omics to digital pathology Monday 16 September 2019 – 12:00-13:00 Cesare Furlanello, Ph.D. (MPBA: Predictive Models for Biomedicine and Environment, FBK – Fondazione Bruno Kessler, Italy) Host : Gisèle Bonne Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski Entrance 82 bd Vincent Auriol metro … [Read more]
COX6A2 variants cause a muscle-specific cytochrome c oxidase deficiency
Cytochrome c oxidase (COX) deficiency is a major mitochondrial respiratory chain defect that has vast genetic and phenotypic heterogeneity. This study aims to identify novel causative genes of COX deficiency with only striated muscle-specific symptoms. Whole exome sequencing was performed in 2 unrelated individuals who were diagnosed with congenital myopathy and presented COX deficiency in … [Read more]
Institute seminar – Wednesday 18 September – Carsten Bönnemann, MD, Ph.D. (USA)
Mutation-Specific Precision Therapy: The COL6 related Dystrophies and Beyond Wednesday 18 September 2019 – 11:30-12:30 Carsten Bönnemann, MD, Ph.D. (Chief, Neuromuscular and Neurogenetic Disorders of Childhood Section (National Institute of Neurological Disorders and Stroke/NIH, Porter Neuroscience Research Center, Bethesda, USA) Host : Gisèle Bonne Institute of Myology auditorium Hôpital de la Pitié-Salpêtrière Building Babinski … [Read more]
Prestige seminar Sorbonne Université – Thursday 12 September – Prof. Wilson Savino (Brazil)
Wilson SAVINO (Professor at the Oswaldo CruzRio-de-Janeiro, Brazil) will give a lecture on september 12th 2019 at 11AM in the lecture room of the Institute of Myology* in connection with his nomination as Docteur Honoris Causa of Sorbonne Université Title: Does the thymus have anything to do with the skeletal muscle ? … [Read more]
Natural history of LGMD type R9 over 6 years: searching for trial endpoints
Limb girdle muscular dystrophy type R9 (LGMD R9) is an autosomal recessive muscle disease for which there is currently no causative treatment. The development of putative therapies requires sensitive outcome measures for clinical trials in this slowly progressing condition. This study extends functional assessments and MRI muscle fat fraction measurements in an LGMD R9 cohort … [Read more]
Foot Function Index: a promising questionnaire for individuals with Charcot-Marie-Tooth disease type 1A
The objective of this study was to evaluate in a preliminary methodologic study, the Foot Function Index (FFI), a 3-subscale (pain, disability, and activity restriction) foot disability assessment questionnaire, in patients with Charcot-Marie-Tooth disease type 1A (CMT1A). A monocentric exploratory cross-sectional study with 2 identical evaluations by the same physical medicine and rehabilitation physician at … [Read more]
Salbutamol tolerability and efficacy in patients with SMA type II
Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by homozygous deletions or loss-of-function mutations in SMN1, which result in a degeneration of motor neurons in the spinal cord and brain stem. Even without a randomized placebo-controlled trial, salbutamol has been offered to patients with SMA in the neuromuscular clinics of most of hospitals … [Read more]
Mitochondrial dysfunction and role of harakiri in the pathogenesis of myositis
The etiology of myositis is unknown. Although attempts to identify viruses in myositis skeletal muscle have failed, several studies have identified the presence of a viral signature in myositis patients. Here the authors postulate that in individuals with susceptible genetic backgrounds, viral infection alters the epigenome to activate the pathological pathways leading to disease onset. … [Read more]
Dysregulation of circular RNAs in DM1
Circular RNAs (circRNAs) constitute a recently re-discovered class of non-coding RNAs functioning as sponges for miRNAs and proteins, affecting RNA splicing and regulating transcription. CircRNAs are generated by “back-splicing”, which is the linking covalently of 3′- and 5′-ends of exons. Thus, circRNA levels might be deregulated in conditions associated with altered RNA-splicing. Significantly, growing evidence … [Read more]
