PMC4302187_01
A: The pedigrees of case 1 and case 2. Arrows indicate the probands of each family. B: Chromatograms showing sequence changes. The left chromatogram from case 1 (left) shows the aberrant 'C' peak, which is slightly larger than the normal 'T' peak (c.14590T>C). The right chromatogram from case 2 shows a normal 'G' peak, which is larger than the aberrant 'A' peak (c.14678G>A).
jcn-11-97-g001.jpg
PMC4302187_02_jcn-11-97-g001.jpg
F1
With regard to his family history, his mother had also experienced limb muscle weakness since childhood (Fig. 1A). Mutational analysis for RYR1 revealed the heterozygous mutation [c.14678G>A (p.Arg4893Gln)] in exon 102 (Fig. 1B).
Muscle sections from case 1. A and B: Multiple peripheral and central cores are characterized by an inexplicit ovoid shape and indistinct borders (A: Nicotinamide dehydrogenase-tetrazolium reductase stain, x200; B: Cytochrome C oxidase, x200). C: All of the muscle fibers were of type 1 (C: Adenosine triphosphatase, pH 4.4, x200). D: Electron micrograph showing a core region lined by arrowheads. The myofibrils are disorganized (arrows) compared with those within intact fibers.
jcn-11-97-g002.jpg
PMC4302187_01_jcn-11-97-g002.jpg
F2
Electron microscopy revealed misalignment of myofibrils in the core region compared with those within intact fibers (Fig. 2).
PMC4302187_02
A: The pedigrees of case 1 and case 2. Arrows indicate the probands of each family. B: Chromatograms showing sequence changes. The left chromatogram from case 1 (left) shows the aberrant 'C' peak, which is slightly larger than the normal 'T' peak (c.14590T>C). The right chromatogram from case 2 shows a normal 'G' peak, which is larger than the aberrant 'A' peak (c.14678G>A).
jcn-11-97-g001.jpg
PMC4302187_02_jcn-11-97-g001.jpg
F1
With regard to his family history, his mother had also experienced limb muscle weakness since childhood (Fig. 1A). Mutational analysis for RYR1 revealed the heterozygous mutation [c.14678G>A (p.Arg4893Gln)] in exon 102 (Fig. 1B).
Muscle sections from case 2. A and B: These slides exhibit peripheral and central cores (A: Nicotinamide dehydrogenase-tetrazolium reductase, x200; B: Cytochrome C oxidase, x200). C: Staining with adenosine triphosphatase (pH 4.4, x100) reveals selective type-1 fiber atrophy. D: Electron micrograph showing a core region (arrows) characterized by disruption of the myofibrillar organization.
jcn-11-97-g003.jpg
PMC4302187_02_jcn-11-97-g003.jpg
F3
Electron microscopy disclosed disruption of the myofibrillar organization (Fig. 3).