MYOBASE

  • FAQ
  • Français
logo AFM

MYOBASE THE BIBLIOGRAPHIC DATABASE ON NEUROMUSCULAR DISORDERS

logo myobase

What is a neuromuscular disease?

A neuromuscular disease is a genetic, inflammatory or autoimmune, rare, progressive and severely disabling illness.
> Read more

ABOUT MYOBASE

Myobase is implemented by  AFM-Téléthon library which has been collecting documents on Neuromuscular Disorders since 1990.
> Read more

How to use Myobase ?

INSTITUTE OF MYOLOGY NEWSLETTERS


A novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia

McArdle disease is a glycogen storage disease caused by mutations in the PYGM gene encoding myophosphorylase. It manifests classically with childhood-onset exercise-induced pain. Here, the authors report the characteristics of 2 unrelated patients with a new homozygous mutation of the PYGM gene. In both patients, symptoms had developed progressively in the 2 preceding years, and … [Read more]

Cet article A novel variant in the PYGM gene causing late-onset limb-girdle myopathy, ptosis, and camptocormia est apparu en premier sur Institut de Myologie.


Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage

  Although technically possible, few clinical laboratories across the world have implemented non-invasive prenatal diagnosis (NIPD) for selected single-gene disorders, mostly owing to the elevated costs incurred. Having previously proven that NIPD for X-linked disorders can be feasibly implemented in clinical practice, the authors of the present study have now developed a test for the … [Read more]

Cet article Non-invasive prenatal diagnosis of spinal muscular atrophy by relative haplotype dosage est apparu en premier sur Institut de Myologie.


Feasibility of digital biomarkers as complementary outcome measures for clinical trials

  Although functional rating scales are being used increasingly as primary outcome measures in spinal muscular atrophy (SMA), sensitive and objective assessment of early-stage disease progression and drug efficacy remain challenging. This explorative study was conducted to determine the feasibility of a new tool designed to measure active upper limb movement in 18 ambulant SMA … [Read more]

Cet article Feasibility of digital biomarkers as complementary outcome measures for clinical trials est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


Maladies rares :Trop de questions sans réponses ! Invitation à la conférence de presse Journée Maladies Rares
Presse
Alors que le 28 février prochain se tiendra la 10è édition de la Journée internationale des maladies rares, les acteurs de la Plateforme Maladies Rares s'inquiètent de l'avenir de la politique française dans le domaine. Errance diagnostique, accès aux soins, développement des thérapeutiques, ... les besoins sont immenses pour les 3 millions de personnes concernées par les maladies rares en France ! Aujourd'hui, les ambitions de notre pays restent floues et les moyens incertains.

SMA : un nouvel essai de thérapie génique en préparation en Europe
Ressources associées
(PDF- octets)
Maladies
Dans un communiqué de presse, la société Avexis annonce la préparation d'un nouvel essai de thérapie génique AVXS-101 en Europe.

Colloque Centenaire Jules Dejerine
Recherche
Une journée consacrée à la vie et l'oeuvre de Jules et d'Augusta Dejerine à l'occasion du centenaire de la mort de Jules Dejerine en 1917.