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Case Reports
. 2016 Feb 25;374(8):795-7.
doi: 10.1056/NEJMc1513610.

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Manuel Schiff  1 , Alice Veauville-Merllié  2 , Chen Hsien Su  3 , Alexander Tzagoloff  3 , Malgorzata Rak  1 , Hélène Ogier de Baulny  1 , Audrey Boutron  4 , Hélène Smedts-Walters  5 , Norma B Romero  6 , Odile Rigal  1 , Pierre Rustin  1 , Christine Vianey-Saban  7 , Cécile Acquaviva-Bourdain  7
Affiliations
Case Reports

SLC25A32 Mutations and Riboflavin-Responsive Exercise Intolerance

Manuel Schiff et al. N Engl J Med. .
No abstract available

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Figures

Figure 1
Figure 1. Histochemical Images of Skeletal-Muscle–Biopsy Specimens Obtained from the Patient
Cross sections of skeletal-muscle–biopsy specimens stained with hematoxylin and eosin (Panel A) show some ragged-red fibers observed mainly in type I fibers (I), which have a predominantly oxidative metabolism, rather than in type II fibers (II), which have a predominantly glycolytic metabolism. ATPase staining at pH 9.4 (Panel B) shows type II fibers (dark), which are slightly smaller than type I fibers (clear). Lipid storage was detected, particularly in type I fibers (Panel C). Oxidative enzyme reactions showed the presence of ragged-red fibers in some muscle fibers with NADH–tetrazolium reductase staining (Panel D) and with cytochrome c oxidase staining (Panel E). In contrast, the large majority of the fibers (Panel F) stained poorly for succinate dehydrogenase (flavin adenine dinucleotide–dependent mitochondrial respiratory-chain complex II), and some did not appear to stain at all.
See this image and copyright information in PMC

References

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