Literature DB >> 8789770

Nemaline myopathy in the neonate: two case reports.

F Vendittelli1, C Manciet-Labarchède, B Gilbert-Dussardier.   

Abstract

UNLABELLED: Nemaline myopathy, one of the most benign myopathies in older children and adults, may be rarely associated with early death in the neonate. The authors report two cases, describing the ante- and postnatal clinical courses. Family history may help in establishing the diagnosis, but this was not the case in the two infants described. Above all, the diagnosis is based on the results of muscle biopsy.
CONCLUSION: Nemaline myopathy may lead to early death in the neonate.

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Year:  1996        PMID: 8789770     DOI: 10.1007/bf01955190

Source DB:  PubMed          Journal:  Eur J Pediatr        ISSN: 0340-6199            Impact factor:   3.183


  11 in total

1.  The echographic diagnosis of fetal akinesia. A challenge towards etiological diagnosis and management.

Authors:  C Grubben; W Gyselaers; P Moerman; K Vandenberghe; J P Fryns
Journal:  Genet Couns       Date:  1990

Review 2.  Early fatal nemaline myopathy: case report and review.

Authors:  H Schmalbruch; Z Kamieniecka; M Arrøe
Journal:  Dev Med Child Neurol       Date:  1987-12       Impact factor: 5.449

3.  [Rod myopathy. A fatal neonatal case].

Authors:  J C Netter; M Laurent-Pellegrin; G Bildstein; R Chateauneuf; M Petrus
Journal:  Arch Fr Pediatr       Date:  1986-05

4.  Antepartum fetal risk assessment: the role of the fetal biophysical profile score.

Authors:  F A Manning; S Menticoglou; C R Harman; I Morrison; I R Lange
Journal:  Baillieres Clin Obstet Gynaecol       Date:  1987-03

Review 5.  [Nemaline myopathy: a syndrome with severe neonatal manifestation].

Authors:  A Cantani; S Mirenna; M G Ziruolo
Journal:  Arch Fr Pediatr       Date:  1987-11

6.  Nemaline myopathy in the neonate.

Authors:  P Norton; P Ellison; A R Sulaiman; J Harb
Journal:  Neurology       Date:  1983-03       Impact factor: 9.910

7.  [Perinatal symptomatology of severe neuromuscular diseases. Apropos of 11 cases].

Authors:  J C Ropert; J F Magny; A M Boulley; B Delaporte; J Marot; M Vial; M Dehan
Journal:  Arch Fr Pediatr       Date:  1984-12

Review 8.  [Neonatal nemaline myopathy with favorable outcome].

Authors:  J Voirin; J B Bonte; D Laloum; F Chapon
Journal:  Arch Fr Pediatr       Date:  1990-03

9.  Neonatal nemaline myopathy presenting with multiple joint contractures.

Authors:  H U Bucher; E Boltshauser; J Briner
Journal:  Eur J Pediatr       Date:  1985-09       Impact factor: 3.183

10.  Myotonic muscular dystrophy associated with ritodrine tocolysis.

Authors:  J S Sholl; M J Hughey; R A Hirschmann
Journal:  Am J Obstet Gynecol       Date:  1985-01-01       Impact factor: 8.661

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  1 in total

1.  Case Report: Prenatal Diagnosis of Nemaline Myopathy.

Authors:  Dongmei Liu; Jiali Yu; Xin Wang; Yang Yang; Li Yu; Shi Zeng; Ming Zhang; Ganqiong Xu
Journal:  Front Pediatr       Date:  2022-07-19       Impact factor: 3.569

  1 in total

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