Table 2.
Histopathological characteristics of skeletal muscle biopsies obtained during routine diagnostics. IF: immunofluorescence analysis, WB: Western Blot analysis.
| Patient | Biopsied Muscle Age at Biopsy | Light Microscopy | Fiber Size | Oxidative Enzyme Reaction |
IF/WB Analysis |
|---|---|---|---|---|---|
| p1 | Vastus lateralis 32 years |
Lipofibromatosis, fiber size variation with some angular atrophic fibers, type-1-fiber predominance, grouping of both fiber types, fiber splittings, central nuclei, few necrotic and regenerating fibers, few nuclear clumps |
Type 1 fibers: 9–186 µm Type 2 fibers: 4–125 µm |
No abnormalities | Reduced: dystrophin 2, dysferlin, alpha-dystroglycan Normal: dystrophin 1 and 3, alpha-sarcoglycan, gamma-sarcoglycan, laminin alpha 2 (80 kD + 300 kD), dysferlin, calpain 2C4 |
| p2 | Gastrocnemius, caput mediale 40 years |
Mild lipofibromatosis, fiber necrosis and regenerating fibers, central nuclei, vacuolar changes |
Type 1 fibers: 16–161 µm Type 2 fibers: 4–136 µm |
Few fibers with irregular oxidative enzyme reaction | Aggregates of: desmin myotilin |
| p3 | Quadriceps femoris 19 months |
Fiber size variation, few angular atrophic fibers, very few regenerating fibers, very few necrosis | Type 1 fibers: 7.5–17.5 µm Type 2 fibers: 7.5–25 µm |
No abnormalities | Reduced: dystrophin 1–3 alpha-dystroglycan Normal: beta-dystroglycan alpha-, beta-, gamma-, and delta-sarcoglycan laminin alpha 2 (80 kD + 300 kD), dysferlin, collagen VI, utrophin, neonatal myosin, calpain 3, dysferlin |
| p5 | Tibialis anterior 55 years |
Central nuclei, few fiber splittings, fiber size variation, type1-fiber-predominance | Type 1 fibers: 9–106 µm Type 2 fibers: 19–90 µm |
Many fibers with irregular oxidative enzyme reaction | Reduced: dysferlin (normal in WB analysis) Normal dystrophin 2, alpha-sarcoglycan, gamma-sarcoglycan, alpha-dystroglycan, laminin alpha 2 (80 kD + 300 kD), myotilin, caveolin 3, calpain 2C4 |
| p7 | Vastus medialis 67 years | Mild lipofibromatosis, slight fiber size variation | Type 1 fibers: 13–116 µm Type 2 fibers: 20–107 µm |
No abnormalities | Reduced: dysferlin Normal: Dystrophin 1, 2, and 3, alpha- and gamma-sarcoglycan, alpha-dystroglycan, calpain 2C4 |