Karen Gaudon

Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin, Corinne Métay, Marco Savarese, Rabah Ben Yaou et autres

Background Titinopathies are caused by mutations in the titin gene (TTN). Titin is the largest known human protein; its gene has the longest coding phase with 364 exons. Titinopathies are very complex neuromuscular pathologies due to the variable age of onset of …

fr, fi, de, us, it, il, be, gb, ee, au, es (code pays fourni par la source)

A severe case of PLOD1 ‐related kyphoscoliotic Ehlers–Danlos syndrome associated with several arterial and venous complications: A case report

Malika Foy, Corinne Métay, Michael Frank, Nicolas Denarié et autres

Kyphoscoliotic Ehlers-Danlos syndrome (kEDS) is a rare genetic disorder combining congenital hypotonia, congenital/early onset and progressive kyphoscoliosis, and generalized joint hypermobility. Vascular fragility is another characteristic of the disease rarely described. We report a severe case of kEDS-PLOD1 with several vascular complications …

fr (code pays fourni par la source)

Analyses fonctionnelles et études de corrélation phénotype-génotype chez des patients suspects de titinopathie

Aurélien Perrin, Charles Van Goethem, Corinne Métay, Raúl Juntas Morales et autres

International audience

fr (code pays fourni par la source)

Novel dominant distal titinopathy phenotype associated with copy number variation

Aurélien Perrin, Raúl Juntas Morales, Françoise Chapon, C. Thèze et autres

The aim of this study was to analyze patients from two distinct families with a novel distal titinopathy phenotype associated with exactly the same CNV in the TTN gene. We used an integrated strategy combining deep phenotyping and complete molecular analyses in …

fr (code pays fourni par la source)

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard et autres

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission.The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ).We report here an Iranian patient in whom CMS was diagnosed since he …

Tunisie, fr, at, jp, ir, us, il (code pays fourni par la source)

Correction: A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Evelyne Goillot et autres

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission.The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ).We report here an Iranian patient in whom CMS was diagnosed since he …

fr, Tunisie, cn, at, jp, ir (code pays fourni par la source)

A Mutation Causes MuSK Reduced Sensitivity to Agrin and Congenital Myasthenia

Asma Ben Ammar, Payam Soltanzadeh, Stéphanie Bauché, Pascale Richard et autres

Congenital myasthenic syndromes (CMSs) are a heterogeneous group of genetic disorders affecting neuromuscular transmission. The agrin/muscle-specific kinase (MuSK) pathway is critical for proper development and maintenance of the neuromuscular junction (NMJ). We report here an Iranian patient in whom CMS was diagnosed …

fr, Tunisie, at, jp, ir (code pays fourni par la source)

Long-term follow-up of patients with congenital myasthenic syndrome caused by COLQ mutations

Isabelle Wargon, Pascale Richard, Thierry Küntzer, Damien Sternberg et autres

fr, ch, ir (code pays fourni par la source)

P5.17 Congenital Myasthenic Syndromes with COLQ mutations: Long term follow-up

Isabelle Wargon, Pascale Richard, Thierry Küntzer, Shahriar Nafissi et autres

fr, ch, ir (code pays fourni par la source)

Multiexon deletions account for 15% of congenital myasthenic syndromes with RAPSN mutations after negative DNA sequencing

Karen Gaudon, I. Pénisson-Besnier, B. Chabrol, Françoise Bouhour et autres

Congenital myasthenic syndromes (CMS) are a heterogeneous group of genetic disorders that give rise to a defect in neuromuscular transmission. We described here three patients with a characteristic phenotype of recessive CMS and presenting mutation in the gene encoding rapsyn (RAPSN). Familial …

fr, Tunisie (code pays fourni par la source)

Phenotype genotype analysis in 15 patients presenting a congenital myasthenic syndrome due to mutations in DOK7

Asma Ben Ammar, François Petit, Nektaria Alexandri, Karen Gaudon et autres

Tunisie, fr (code pays fourni par la source)

Identification of an Agrin Mutation that Causes Congenital Myasthenia and Affects Synapse Function

Caroline Huzé, Stéphanie Bauché, Pascale Richard, Frédéric Chevessier et autres