Retard diagnostique dans l'amyotrophie spinale infantile de type II

REIMS-BU Santé (514542104) / SudocPARIS-BIUM (751062103) / SudocSudocFranceF

Interview with Engelbert Stockhammer

Engelbert Stockhammer obtained his PhD at the University of Massachusetts at Amherst in 2000. He joined Kingston in 2010. He is presently research associate at the Political Economy Research Institute at the University of Massachusetts at Amherst) and member of the coordination committee of the Research Network Macroeconomics and Macroeconomic Policy. His research areas include macroeconomics, applied econometrics, financial systems and heterodox economics. He has worked extensively on the de..

Troubles respiratoires du sommeil d’apparition précoce et sélénopathie : à propos de 2 cas pédiatriques

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Early Onset of Sleep-Disordered Breathing in Two Children With SEPN1 -Related Myopathies

International audienceSelenoprotein-related myopathy (SEPN1-RM) is a rare disease with a variable clinical presentation. The selenoprotein N1 gene (SEPN1) mutation causing this congenital muscular dystrophy was identified in 2001. Sleep-disordered breathing (SDB) may occur in young SEPN1-RM patients who are still able to walk. We report here the cases of two children with SEPN1-RM who presented with SDB at the ages of 7 and 12 years and for whom long-term nocturnal noninvasive ventilation yielded significant improvement. Based upon literature review and our current cases, it seems that there is no obvious relationship between time since SDB onset and outcome of pulmonary function tests or limb muscle weakness. We therefore suggest that sleep-disordered breathing should systematically be screened for in patients with SEPN1-RM, at regular intervals using nocturnal polysomnography

Relapsing encephalopathy with cerebellar ataxia are caused by variants involving p.Arg756 in ATP1A3

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Novel SPEG Mutations in Congenital Myopathy without Centralized Nuclei

Congenital myopathies are clinically and genetically heterogeneous, and are classified based on typical structural abnormalities on muscle sections. Recessive mutations in the striated muscle preferentially expressed protein kinase (SPEG) were recently reported in patients with centronuclear myopathy (CNM) associated in most cases with dilated cardiomyopathy. Here we report the identification of novel biallelic truncating SPEG mutations in a patient with moderate congenital myopathy without clinical and histological hallmarks of CNM and without cardiomyopathy. This study expands the phenotypic spectrum of SPEG-related myopathy and prompts to consider SPEG for congenital myopathies without specific histological features