Laminopathies
RSS feedA new natural history of muscle-expressing laminopathies
Italian researchers studied the evolution of clinical and biological parameters in a cohort of patients diagnosed and followed for myopathy related to pathogenic variants of the LMNA gene: 26 patients took part in this study, which lasted two years. the usual follow-up parameters were used as the basis for the analysis (NSAA score, timed tests, … [Read more]
L-carnitine and creatine show therapeutic potential in animal models of laminopathy
Amino acid derivatives have been shown to be beneficial in a number of myopathies, including collagenopathies and congenital myopathies. Taiwanese researchers have explored the therapeutic relevance of these molecules, in particular L-carnitine and creatine, in two laminopathies: LMNA-related congenital muscular dystrophy (CMD) and Emery-Dreifuss muscular dystrophy (EDMD). They generated five lines of zebrafish models of … [Read more]
The Fondation Leducq has recently awarded funding to the PRIORITY international network of excellence, coordinated by Dr Gisèle Bonne.
The PRIORITY international network of excellence has just been awarded an $8,000,000 grant from the Fondation Leducq. PRIORITY is a research consortium of 8 partners, 4 from Europe and 4 from North America*, which will work on LMNA gene-related dilated cardiomyopathy (LMNA-DCM). PRIORITY will be coordinated by Dr Gisèle Bonne (Institut de Myologie, France) and … [Read more]
Efficacy of long-term quasi-total parenteral nutrition in a young man with Emery-Dreifuss muscular dystrophy
The weight of a 26-year-old man with Emery-Dreifuss muscular dystrophy fell in one year from over 23.8 kg to 22.5 kg, in connection with a worsening of his dysphagia to solid foods over the last six months. He was consuming 500 to 600 kcal/day and 150 to 200ml of water. He was put on total … [Read more]
Overview of neuromuscular diseases
After a brief reminder of the structure of the motor unit and the various modes of inheritance, this document provides short descriptions of the neuromuscular diseases that are part of our scope at AFM-Téléthon, as well as how to manage and treat them. For each group of diseases, as well as in the motor unit … [Read more]
Mariko Okubo awarded at the WMS for the discovery of a potential new role for lamins – Interview
Mariko Okubo is a post-doctoral researcher in the Myology Centre for Research in the « Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology » team. She is a Japanese Pediatric Neurologist and came to Paris two years ago. She was awarded the Léa Rose Prize at the WMS annual conference held from 3 to 7 … [Read more]
Louise Benarroch wins Elsevier Runner Up Award at WMS 2023 – Interview
Louise Benarroch is a post-doctoral researcher in the “Myomatrix & Myonucleus Related Diseases: Genetics & Pathophysiology” team led by Gisèle Bonne in the Institute’s CRM. Her latest work on the characterisation of a cellular model for muscle diseases was published* at the end of August, and was also presented at the 28th International Congress of … [Read more]
A very high risk of cardiac complications in Emery-Dreifuss muscular dystrophy
An international consortium of researchers and clinicians investigated disorders of cardiac function and/or cardiac rhythm during the course of Emery-Dreifuss muscular dystrophy linked to the gene encoding emerin (EMD1) of X-linked recessive transmission : longitudinal clinical and electrophysiological data from 38 men with EMD1 and 21 symptomatic female EMD1 transmitters were analysed in the study, … [Read more]
A European study clarifies the cardiac phenotype of children with muscular laminopathy
European neuropaediatricians and cardiologists have compiled the clinical and paraclinical data, in particular cardiac data, of a large cohort of 28 children with various phenotypes of laminopathy: 13 presented with an Emery-Dreifuss type phenotype, 11 with LMNA-related congenital muscular dystrophy (L-CMD), two with limb-girdle muscular dystrophy and two with moderate muscular deficiency, During follow-up, six … [Read more]
A look back at the 4th International Meeting on Laminopathies
The 4th International Meeting on Laminopathies, held in Madrid from 9 to 12 May 2023, brought together researchers and physicians interested in these rare diseases, representatives of the pharmaceutical industry, as well as laminopathy patients and patient organisations from around the world. The meeting welcomed 166 participants from 24 countries. By providing a forum for … [Read more]
