Literature DB >> 8685004

[A case of chronic progressive external ophthalmoplegia with severe scoliosis].

A Berio1, A Piazzi.   

Abstract

The Authors reports a case of myopathy with severe scoliosis which can be classified within the context of chronic progressive external ophthalmoplegia (CPEO) and discusses the complex etiopathogenetic, histological and clinical aspects of this mitochondrial myopathy. In particular, they underlines the severity of the scoliosis and muscular, bone and respiratory symptoms in this case and the important role played by histological, histochemical and biochemical aspects in the diagnosis.

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Mesh:

Year:  1995        PMID: 8685004

Source DB:  PubMed          Journal:  Pediatr Med Chir        ISSN: 0391-5387


  1 in total

1.  A Novel Mutation of Mitochondrial T14709C Causes Myoclonic Epilepsy with Ragged Red Fibers Syndrome in a Chinese Patient.

Authors:  Rui Ban; Jun-Hong Guo; Chuan-Qiang Pu; Qiang Shi; Hua-Xu Liu; Yu-Tong Zhang
Journal:  Chin Med J (Engl)       Date:  2018-07-05       Impact factor: 2.628

  1 in total

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