Twinkle: Muscle Pathology
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70 year old female Histochemistry 44 year old female Histochemistry Ultrastructure 1 |
Twinkle mutation: 70 year-old female
 H&E stain |
Sizes: Mildly varied; Some small fibers & Nuclear clumps
Internal architecture: Irregular in some muscle fibers (Arrow)
Muscle fibers with Mitochondrial Proliferation
Irregular red stain (Ragged red)
 Gomori trichrome stain |
 VvG stain |
Internal architecture: Irregular
 VvG stain |
 COX stain |
Reduced staining in scattered muscle fibers
 COX stain |
Succcinate Dehydrogenase (SDH)
Scattered fibers with increased staining
 SDH stain |
 SDH stain |
Muscle fibers have increased staining
 SDH stain |
Twinkle mutation: 44 year-old female
 H & E stain |
Varied sizes
internal nuclei
 Gomori trichrome stain |
Internal architecture: Irregular; Red subsarcolemmal stain
 NADH stain |
Lipid Droplets in muscle fibers
Size: Very small
Most prominent In a muscle fiber with mitochondrial proliferation
 Sudan stain |
 COX stain |
Muscle fibers with reduced staining
Mitochondria not visible
 COX stain |
 SDH stain |
Scattered muscle fibers with increased staining
Mitochondria appear large
Twinkle mutations: Muscle fiber types
Type I muscle fibers: Mild predominance
Lipid droplets: Increased in a few type 1 (Intermediate-stained) muscle fibers
 ATPase pH 9.4 stain |
 ATPase pH 4.3 stain |
Twinkle: Muscle Ultrastructure
Mitochondrial Proliferation
 From: R Schmidt; C Cai |
Many mitochondria are abnormal: Large; Long; Dark-stained
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
Many mitochondria are abnormal: Large; Long; Dark-stained
 From: R Schmidt; C Cai |
Mitochondria: Subsarcolemmal accumulations
Many mitochondria in 1 fiber are: Large; Dark-stained
 From: R Schmidt |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
 From: R Schmidt; C Cai |
From: R Schmidt; C Cai |
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6/25/2025