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

Journal of Neuromuscular Diseases

Volumn 3, Issue 4, 2016, Pages 487-495

  Grotto, Sarah ^a   Cuisset, Jean Marie ^b   Marret, Stéphane ^a,c   Drunat, Séverine ^d   Faure, Patricia ^c   Audebert Bellanger, Séverine ^e   Desguerre, Isabelle ^f   Flurin, Vincent ^g   Grebille, Anne Gaëlle ^h   Guerrot, Anne Marie ^a   Journel, Hubert ⁱ   Morin, Gilles ^j   Plessis, Ghislaine ^k   Renolleau, Sylvain ^f,l   Roume, Joëlle ^m   Simon Bouy, Brigitte ⁿ   Touraine, Renaud ^o   Willems, Marjolaine ^f,p   Frébourg, Thierry ^a,c   Verspyck, Eric ^a   Saugier Veber, Pascale ^a,c   more..

^a ROUEN UNIVERSITY HOSPITAL   (France)

^b LILLE UNIVERSITY HOSPITAL   (France)

^c UNIVERSITY OF ROUEN   (France)

^d HÔPITAL ROBERT DEBRÉ   (France)

^e BREST UNIVERSITY HOSPITAL   (France)

^f HÔPITAL NECKER ENFANTS MALADES   (France)

^g CENTRE HOSPITALIER DU MANS   (France)

^h Saint Brieuc Hospital   (France)

ⁱ Department of Surgery   (France)

^j AMIENS UNIVERSITY HOSPITAL   (France)

^k CAEN UNIVERSITY HOSPITAL   (France)

^l ARMAND TROUSSEAU HOSPITAL   (France)

^m Department of Reproductive Biology Cytogenetics Gynaecology and Obstetrics   (France)

ⁿ CENTRE HOSPITALIER DE VERSAILLES   (France)

^o UNIVERSITY HOSPITAL OF SAINT ETIENNE   (France)

^p MONTPELLIER UNIVERSITY HOSPITAL   (France)

more..

Author keywords

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

Indexed keywords

SURVIVAL MOTOR NEURON PROTEIN 1; SURVIVAL MOTOR NEURON PROTEIN 2; SMN1 PROTEIN, HUMAN; SMN2 PROTEIN, HUMAN;

ADULT; AKINESIA; AMNION FLUID; ARTICLE; AUTONOMIC NEUROPATHY; BRADYCARDIA; BRAIN ATROPHY; CLINICAL ARTICLE; CONGENITAL HEART DISEASE; CONTROLLED STUDY; CRANIAL NEUROPATHY; DYSPHAGIA; FACE MUSCLE; FASCICULATION; FEMALE; FETUS ECHOGRAPHY; FETUS MOVEMENT; FRANCE; GENE DOSAGE; GENOTYPE; GESTATIONAL AGE; HEART ATRIUM SEPTUM DEFECT; HEART VENTRICLE SEPTUM DEFECT; HUMAN; HYDRAMNIOS; JOINT CONTRACTURE; KARYOTYPE; LIFE EXPECTANCY; MALE; MULTIPLEX POLYMERASE CHAIN REACTION; MUSCLE HYPOTONIA; MUSCLE WEAKNESS; NAIL HYPOPLASIA; NIPPLE MALFORMATION; NUCHAL TRANSLUCENCY MEASUREMENT; OLIGOHYDRAMNIOS; PERINATAL PERIOD; PERIPHERAL EDEMA; PRENATAL PERIOD; PRIORITY JOURNAL; QUANTITATIVE ANALYSIS; RESPIRATORY DISTRESS; RETROSPECTIVE STUDY; SPINAL MUSCULAR ATROPHY; TENDON REFLEX; XEROSIS; ARTHROGRYPOSIS; COMPLICATION; CONGENITAL HEART MALFORMATION; DIAGNOSTIC IMAGING; GENETICS; HEREDITARY SPINAL MUSCULAR ATROPHY; HOMOZYGOTE; NEONATAL RESPIRATORY DISTRESS SYNDROME; NEWBORN; PATHOLOGICAL REFLEX; PATHOPHYSIOLOGY;

ARTHROGRYPOSIS; AUTONOMIC NERVOUS SYSTEM DISEASES; CRANIAL NERVE DISEASES; FEMALE; GENOTYPE; HEART DEFECTS, CONGENITAL; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; LIFE EXPECTANCY; MALE; MUSCLE HYPOTONIA; REFLEX, ABNORMAL; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SPINAL MUSCULAR ATROPHIES OF CHILDHOOD; SURVIVAL OF MOTOR NEURON 1 PROTEIN; SURVIVAL OF MOTOR NEURON 2 PROTEIN; ULTRASONOGRAPHY, PRENATAL;

EID: 85029635067     PISSN: 22143599     EISSN: 22143602     Source Type: Journal    
DOI: 10.3233/JND-160177     Document Type: Article

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