MYOBASE

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MYOBASE THE BIBLIOGRAPHIC DATABASE ON NEUROMUSCULAR DISORDERS

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What is a neuromuscular disease?

A neuromuscular disease is a genetic, inflammatory or autoimmune, rare, progressive and severely disabling illness.
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ABOUT MYOBASE

Myobase is implemented by  AFM-Téléthon library which has been collecting documents on Neuromuscular Disorders since 1990.
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How to use Myobase ?

INSTITUTE OF MYOLOGY NEWSLETTERS


Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy

GNE myopathy is a rare, autosomal recessive, inborn error of sialic acid metabolism, caused by mutations in GNE, the gene encoding UDP-N-acetyl-glucosamine-2-epimerase/N-acetylmannosamine kinase. The disease manifests as an adult-onset myopathy characterized by progressive skeletal muscle weakness and atrophy. There is no medical therapy available for this debilitating disease. Hyposialylation of muscle glycoproteins likely contributes to … [Read more]

Cet article Safety, pharmacokinetics and sialic acid production after oral administration of N-acetylmannosamine (ManNAc) to subjects with GNE myopathy est apparu en premier sur Institut de Myologie.


Novel clinical and pathological features in cystinosis distal myopathy

  Nephropathic cystinosis is an autosomal recessive lysosomal disease in which cystine cannot exit the lysosome to complete its degradation in the cytoplasm, thus accumulating in tissues. Some patients develop a distal myopathy involving mainly hand muscles. Myopathology descriptions from only 5 patients are available in the literature. Here, the authors present a comprehensive clinical, … [Read more]

Cet article Novel clinical and pathological features in cystinosis distal myopathy est apparu en premier sur Institut de Myologie.


A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome

  Multinucleate cellular syncytial formation is a hallmark of skeletal muscle differentiation. Myomaker, encoded by Mymk (Tmem8c), is a well-conserved plasma membrane protein required for myoblast fusion to form multinucleated myotubes in mouse, chick, and zebrafish. This multinational study reports that autosomal recessive mutations in MYMK (OMIM 615345) cause Carey-Fineman-Ziter syndrome in humans (CFZS; OMIM … [Read more]

Cet article A defect in myoblast fusion underlies Carey-Fineman-Ziter syndrome est apparu en premier sur Institut de Myologie.


Actualités AFM-Téléthon


Vacances : la maison familiale La Hamonais est ouverte jusqu'à fin octobre
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Envie de prolonger vos vacances ou vous offrir quelques jours de détente ? Il reste encore des disponibilités à la maison familiale La Hamonais située près de Saint-Brieuc en Bretagne.

Concours Fab Life : dernière ligne droite !
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Parents bricoleurs, connaissez-vous le concours Fab Life ? Le concours qui récompense les idées qui facilitent la vie des personnes en situation de dépendance.

La brochure « Innover pour guérir » version 2017 disponible
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La nouvelle édition de la brochure Innover pour Guérir qui compile les informations essentielles sur l'Association est désormais disponible.