Literature DB >> 6311989

Fatal neonatal nemaline myopathy: a case report.

M Tsujihata, C Shimomura, T Yoshimura, A Sato, T Ogawa, Y Tsuji, S Nagataki, T Matsuo.   

Abstract

A fatal neonatal nemaline myopathy in a Japanese girl was described. The patient was hypotonic at birth and failed to establish effective respiration. Rod-like structures were observed within a variety of skeletal muscles, particularly in the diaphragm. This is the first case of fatal neonatal nemaline myopathy in which many satellite cells were observed.

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Year:  1983        PMID： 6311989      PMCID： PMC1027571          DOI： 10.1136/jnnp.46.9.856

Source DB:  PubMed          Journal:  J Neurol Neurosurg Psychiatry        ISSN： 0022-3050            Impact factor:   10.154


  14 in total

1.  Satellite cells and muscle regeneration in diseased human skeletal muscles.

Authors:  S M Chou; I Nonaka
Journal:  J Neurol Sci       Date:  1977-10       Impact factor: 3.181

2.  Nemaline myopathy: report of a fatal case, with histochemical and electron microscopic studies.

Authors:  S A Shafiq; V Dubowitz; H de C Peterson; A T Milhorat
Journal:  Brain       Date:  1967-12       Impact factor: 13.501

3.  Nemaline myopathy. A family study with three autopsied cases.

Authors:  H B Neustein
Journal:  Arch Pathol       Date:  1973-09

4.  A new concept of childhood nemaline myopathy.

Authors:  G Karpati; S Carpenter; F Andermann
Journal:  Arch Neurol       Date:  1971-04

5.  Nemaline myopathy. A histological and ultrastructural study of skeletal muscle from a case presenting with infantile hypotonia.

Authors:  J J Fulthorpe; D Gardner-Medwin; P Hudgson; J N Walton
Journal:  Neurology       Date:  1969-08       Impact factor: 9.910

6.  New evidence for excessive accumulation of Z-band material in nemaline myopathy.

Authors:  H M Price; G B Gordon; C M Pearson; T L Munsat; J M Blumberg
Journal:  Proc Natl Acad Sci U S A       Date:  1965-11       Impact factor: 11.205

7.  The fine structure of the rod-like bodies in nemaline myopathy and their relation to the Z-discs.

Authors:  N K Gonatas
Journal:  J Neuropathol Exp Neurol       Date:  1966-07       Impact factor: 3.685

8.  An electron microscopic study of regeneration and satellite cells in human muscle.

Authors:  S A Shafiq; M A Gorycki; A T Milhorat
Journal:  Neurology       Date:  1967-06       Impact factor: 9.910

9.  Nemaline (rod) myopathy: a possible cause of rapidly fatal infantile hypotonia.

Authors:  C Gillies; J Raye; U Vasan; W E Hart; P J Goldblatt
Journal:  Arch Pathol Lab Med       Date:  1979-01       Impact factor: 5.534

10.  Fatal neonatal nemaline myopathy with multiple congenital anomalies.

Authors:  R D McComb; W R Markesbery; W N O'Connor
Journal:  J Pediatr       Date:  1979-01       Impact factor: 4.406
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  7 in total

1.  Nemaline myopathy: a report of two siblings as evidence of autosomal recessive inheritance of the infantile type.

Authors:  J D Cartwright; D J Castle; M G Duffield; I Reef
Journal:  Postgrad Med J       Date:  1990-11       Impact factor: 2.401

2.  Adult onset of nemaline myopathy presenting as diaphragmatic paralysis.

Authors:  Y Harati; E Niakan; K Bloom; G Casar
Journal:  J Neurol Neurosurg Psychiatry       Date:  1987-01       Impact factor: 10.154

3.  Nemaline myopathy in the neonate: two case reports.

Authors:  F Vendittelli; C Manciet-Labarchède; B Gilbert-Dussardier
Journal:  Eur J Pediatr       Date:  1996-06       Impact factor: 3.183

4.  Anaesthetic implications of nemaline rod myopathy.

Authors:  M Cunliffe; F A Burrows
Journal:  Can Anaesth Soc J       Date:  1985-09

5.  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

6.  Nemaline myopathy: two autopsy reports.

Authors:  M Bergmann; M Kamarampaka; K Kuchelmeister; H Klein; H Koch
Journal:  Childs Nerv Syst       Date:  1995-10       Impact factor: 1.475

7.  Nebulin nemaline myopathy recapitulated in a compound heterozygous mouse model with both a missense and a nonsense mutation in Neb.

Authors:  Jenni M Laitila; Elyshia L McNamara; Catherine D Wingate; Hayley Goullee; Jacob A Ross; Rhonda L Taylor; Robbert van der Pijl; Lisa M Griffiths; Rachel Harries; Gianina Ravenscroft; Joshua S Clayton; Caroline Sewry; Michael W Lawlor; Coen A C Ottenheijm; Anthony J Bakker; Julien Ochala; Nigel G Laing; Carina Wallgren-Pettersson; Katarina Pelin; Kristen J Nowak
Journal:  Acta Neuropathol Commun       Date:  2020-02-17       Impact factor: 7.801
  7 in total

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