Literature DB >> 22941215

Mutations in the nebulin gene in a child with nemaline (rod) myopathy.

Seema Kapoor1, Ankur Singh, Vilma-Lotta Lehtokari, Carina Wallgren-Pettersson, Vineeta Vijay Batra.   

Abstract

Nemaline myopathy, also called rod myopathy, is a relatively common congenital myopathy and probably second in incidence only to central core disease. The mainstay of diagnosis is histopathology, but detection of the causative mutation is mandatory for determining the mode of inheritance and for prenatal diagnosis. The authors report two siblings with nemaline myopathy caused by mutations in the nebulin gene.

Entities:  

Mesh：

Substances：

Year:  2012        PMID： 22941215     DOI： 10.1007/s12098-012-0867-9

Source DB:  PubMed          Journal:  Indian J Pediatr        ISSN： 0019-5456            Impact factor:   1.967


  9 in total

1.  'An artefact gone awry': identification of the first case of nemaline myopathy by Dr R.D.K. Reye.

Authors:  C Schnell; A Kan; K N North
Journal:  Neuromuscul Disord       Date:  2000-06       Impact factor: 4.296

2.  Genotype-phenotype correlations in nemaline myopathy caused by mutations in the genes for nebulin and skeletal muscle alpha-actin.

Authors:  Carina Wallgren-Pettersson; Katarina Pelin; Kristen J Nowak; Francesco Muntoni; Norma B Romero; Hans H Goebel; Kathryn N North; Alan H Beggs; Nigel G Laing
Journal:  Neuromuscul Disord       Date:  2004-09       Impact factor: 4.296

3.  138th ENMC Workshop: nemaline myopathy, 20-22 May 2005, Naarden, The Netherlands.

Authors:  Carina Wallgren-Pettersson; Nigel G Laing
Journal:  Neuromuscul Disord       Date:  2005-12-20       Impact factor: 4.296

4.  Central core disease. A correlated genetic, histochemical, ultramicroscopic, and biochemical study.

Authors:  H Isaacs; J J Heffron; M Badenhorst
Journal:  J Neurol Neurosurg Psychiatry       Date:  1975-12       Impact factor: 10.154

5.  Nemaline rod myopathy: a rare form of myopathy.

Authors:  M C Sharma; S Gulati; S Atri; R Seth; V Kalra; T K Das; C Sarkar
Journal:  Neurol India       Date:  2007 Jan-Mar       Impact factor: 2.117

6.  Mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Authors:  K Pelin; P Hilpelä; K Donner; C Sewry; P A Akkari; S D Wilton; D Wattanasirichaigoon; M L Bang; T Centner; F Hanefeld; S Odent; M Fardeau; J A Urtizberea; F Muntoni; V Dubowitz; A H Beggs; N G Laing; S Labeit; A de la Chapelle; C Wallgren-Pettersson
Journal:  Proc Natl Acad Sci U S A       Date:  1999-03-02       Impact factor: 11.205

Review 7.  Congenital myopathies--a comprehensive update of recent advancements.

Authors:  M C Sharma; D Jain; C Sarkar; H H Goebel
Journal:  Acta Neurol Scand       Date:  2009-05       Impact factor: 3.209

8.  Congenital myopathies: a clinicopathological study of 25 cases.

Authors:  Deepali Jain; Mehar C Sharma; Chitra Sarkar; Shefali Gulati; Veena Kalra; Sumit Singh; Rohit Bhatia
Journal:  Indian J Pathol Microbiol       Date:  2008 Oct-Dec       Impact factor: 0.740

9.  Identification of 45 novel mutations in the nebulin gene associated with autosomal recessive nemaline myopathy.

Authors:  Vilma-Lotta Lehtokari; Katarina Pelin; Maria Sandbacka; Salla Ranta; Kati Donner; Francesco Muntoni; Caroline Sewry; Corrado Angelini; Kate Bushby; Peter Van den Bergh; Susan Iannaccone; Nigel G Laing; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2006-09       Impact factor: 4.878
  9 in total
  1 in total

1.  Mutation update: the spectra of nebulin variants and associated myopathies.

Authors:  Vilma-Lotta Lehtokari; Kirsi Kiiski; Sarah A Sandaradura; Jocelyn Laporte; Pauliina Repo; Jennifer A Frey; Kati Donner; Minttu Marttila; Carol Saunders; Peter G Barth; Johan T den Dunnen; Alan H Beggs; Nigel F Clarke; Kathryn N North; Nigel G Laing; Norma B Romero; Thomas L Winder; Katarina Pelin; Carina Wallgren-Pettersson
Journal:  Hum Mutat       Date:  2014-12       Impact factor: 4.878
  1 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.