| Family A | Family B | Family C | ||||
---|---|---|---|---|---|---|---|
TTN Mutation | p.Gly30150Asp | p.Cys30071Arg | |||||
Patient | (II:3) | (II:4) | (II:6) | (III:1) | (III:3) | Index | Index |
Age at onset | 29 | 17 | 22 | 13 | 14 | 22 | 36 |
Age at biopsy | 37 | 33 | 29 | 14 | 15 | 25 | 41 |
Biopsied muscle | deltoid | deltoid | biceps | quadriceps | quadriceps | gastrocnemius | quadriceps |
Variation of fiber size | +++ | ++ | ++ | + | - | +++ | + |
Fibro-fatty tissue proliferation | ++ | + | - | - | - | +++ | - |
Internal nuclei | +++ | + | + | - | - | ++ | + |
Necrosis/phagocytosis | + | - | - | - | - | + | - |
Interstitial inflammation | + | - | - | + | - | - | - |
Cytoplasmic bodies | + | + | + | ++ | + | +++ | ++ |
Rimmed vacuoles | ++ | + | ++ | + | + | ++ | + |
Uneven oxidative enzyme activity | + | + | ++ | - | - | ++ | + |
Sarcoplasmic tubulofilaments | - | - | - | - | - | + | - |
Intranuclear tubulofilaments | - | - | - | - | - | + | - |