Literature DB >> 19334348

Mitochondrial encephalomyopathies and related syndromes: brief review.

Enrico Bertini1, Adele D'Amico.   

Abstract

A brief and comprehensive review on mitochondrial cytopathies is reported showing the extreme clinical and genetic heterogeneity of these disorders. Syndromes of mitochondrial cytopathiesencompass most of the medical specialties and diagnosis of mitochondrial cytopathies is complicated,needing the combination of multiple expertise: muscle morphology, neuroradiology, biochemistry(enzymology, chemical analysis), and genetics.

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Year:  2009        PMID: 19334348     DOI: 10.1159/000207439

Source DB:  PubMed          Journal:  Endocr Dev        ISSN: 1421-7082


  1 in total

1.  48XXYY Syndrome in an Adult with Type 2 Diabetes Mellitus, Unilateral Renal Aplasia, and Pigmentary Retinitis.

Authors:  Baha Zantour; Mohamed Habib Sfar; Samia Younes; Wafa Alaya; Mahdi Kamoun; Emna Mkaouar; Saida Jerbi
Journal:  Case Rep Med       Date:  2010-08-17
  1 in total

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