Table 2

Pathology features in HMERF patients carrying titin p.Gly30150Asp and p.Cys30071Arg mutations
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 - - - - - + -

+ mild; ++ moderate; +++ severe; - not seen.

Toro et al.

Toro et al. BMC Neurology 2013 13:29   doi:10.1186/1471-2377-13-29

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