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. 2012 Dec 7;91(6):1095–1102. doi: 10.1016/j.ajhg.2012.10.008

Figure 1.

Figure 1

Pedigree, Brain Imaging, and Skeletal Muscle Analysis and Sanger Sequencing

(A) Pedigree of the family. White, unaffected; black, affected.

(B) Fluid-attenuated inversion recovery (FLAIR) magnetic resonance imaging on a transverse section of supratentorial brain of an affected individual showing multiple punctate hyperintensities in the white matter (arrows; subject III-6).

(C–E) Muscle biopsy showing variation in fiber size (hematoxylin and eosin staining, C), esterase-positive angular atrophic myofibers (esterase staining, D), and fiber grouping with some targetoid fibers (nicotinamide adenine dinucleotide-tetrazolium reductase, E) (subject III-9). (F) Electron microscopic image of muscle showing variation in shape and increase in number of mitochondria, mainly in the subsarcolemmal areas (subject III-9).

(G) Chromatograms of AIFM1 showing the c.1478A>T (p.Glu493Val) variant (asterisk) in an affected individual (hemizygote) and a carrier (heterozygote).