Literature DB >> 3569369

Centronuclear myopathy with unusual clinical picture.

M G Lovaste, D Aldovini, G Ferrari.   

Abstract

The authors describe two cases of familial muscle disease, a mother and her daughter, characterized by centrally placed nuclei and a predominance of hypotrophic type 1 fibers. Clinically the patients exhibited a muscular weakness and atrophy localized mainly distally. Both showed hypertrophy of their calves. The nosological classification of the cases is uncertain; however, both are considered as examples of centronuclear myopathy with unusual clinical features.

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Year:  1987        PMID: 3569369     DOI: 10.1159/000116328

Source DB:  PubMed          Journal:  Eur Neurol        ISSN: 0014-3022            Impact factor:   1.710


  4 in total

1.  Sporadic centronuclear myopathy with muscle pseudohypertrophy, neutropenia, and necklace fibers due to a DNM2 mutation.

Authors:  Teerin Liewluck; Tracy L Lovell; Anna V Bite; Andrew G Engel
Journal:  Neuromuscul Disord       Date:  2010-12       Impact factor: 4.296

2.  Autosomal dominant centronuclear myopathy with unique clinical presentations.

Authors:  Jee Young Lee; Ju Hong Min; Yoon Ho Hong; Jung Joon Sung; Sung Hye Park; Seong Ho Park; Kwang Woo Lee; Kyung Seok Park
Journal:  J Korean Med Sci       Date:  2007-12       Impact factor: 2.153

Review 3.  The myotubular myopathies: differential diagnosis of the X linked recessive, autosomal dominant, and autosomal recessive forms and present state of DNA studies.

Authors:  C Wallgren-Pettersson; A Clarke; F Samson; M Fardeau; V Dubowitz; H Moser; T Grimm; R J Barohn; P G Barth
Journal:  J Med Genet       Date:  1995-09       Impact factor: 6.318

Review 4.  Centronuclear (myotubular) myopathy.

Authors:  Heinz Jungbluth; Carina Wallgren-Pettersson; Jocelyn Laporte
Journal:  Orphanet J Rare Dis       Date:  2008-09-25       Impact factor: 4.123

  4 in total

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