Table 3 Histological and biochemical data of Swiss dysferlinopathy patients
From: Dysferlinopathy in Switzerland: clinical phenotypes and potential founder effects
Family-patient | Disease duration at biopsy (y)/muscle/findings | WB Dysf/immunohistochemistry |
|---|---|---|
A-1 | 26/trapezius/atrophic fibers; slight fibrosis; fatty infiltration | absent/nd |
A-2 | Biopsy in 1986; histopathological data na | absent/nd |
B-3 | 1/vastus lateralis/atrophic fibers; fibre size variability;/re- and degenerating fibers; necrotic fibers; endo- and perimysial fibrosis; inflammation | absent/reduced |
C-4 | 3/vastus lateralis/de- and regenerating fibers, | nd/absent |
| Â | whorled fibers, myophagocytosis, endomysial fibrosis | Â |
C-5 to C-7 | Genetic testing without prior biopsy | Â |
C-8 | Biopsy in 1977; na | Â |
D-9 | 20/vastus lateralis/focal fiber atrophy, hypertrophy, | nd/reduced |
| Â | necrotic fibers, increased internalized nuclei | Â |
D-10, D-11 | Genetic testing without prior biopsy | Â |
E-12 | 1/gracilis/re- and degenerating fibers, | nd/absent |
| Â | myophagocytosis, fibrosis, COX-neg. fibers | Â |
F-13 | Genetic testing without prior biopsy | Â |