Type 0 Spinal Muscular Atrophy: Further Delineation of Prenatal and Postnatal Features in 16 Patients.

Sarah Grotto,Jean-Marie Cuisset,Stéphane Marret,Séverine Drunat, Patricia Faure,Séverine Audebert-Bellanger,Isabelle Desguerre, Vincent Flurin, Anne-Gaëlle Grebille,Anne-Marie Guerrot,Hubert Journel,Gilles Morin,Ghislaine Plessis,Sylvain Renolleau,Joëlle Roume,Brigitte Simon-Bouy,Renaud Touraine,Marjolaine Willems,Thierry Frebourg,Eric Verspyck,Pascale Saugier-Veber

Journal of neuromuscular diseases（2016）

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摘要

Despite a prenatal onset attested by severity at birth and signs of fetal akinesia deformation sequence, prenatal manifestations of type 0 SMA are not specific and not constant. As illustrated by the frequent association with congenital heart defects, type 0 SMA physiopathology is not restricted to motor neuron, highlighting that SMN function is critical for organogenesis.

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关键词

Spinal muscular atrophy,congenital heart defect,fetal akinesia deformation sequence,human SMN2 protein,prenatal ultrasonography

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