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

doi:10.3233/JND-160177

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Article

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

Journal of neuromuscular diseases - 29 Nov 2016

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

Abstract excerpt

BACKGROUND: Spinal muscular atrophy (SMA) is caused by homozygous inactivation of the SMN1 gene. The SMN2 copy number modulates the severity of SMA. The 0SMN1/1SMN2 genotype, the most severe genotype compatible with life, is expected to be associated with the most severe form of the disease, called type 0 SMA, defined by prenatal onset. OBJECTIVE: The aim of the study was to review clinical features and prenatal...

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Identifiers

PMID: 27911332
DOI: 10.3233/JND-160177

Genes

SMN1
SMN2

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

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