Table 1 Clinical histological phenotype of patient myoblast samples.
From: FKRP-dependent glycosylation of fibronectin regulates muscle pathology in muscular dystrophy
LGMD2I | CMD |
|---|---|
Well organised muscle tissue with normotrophic fibres and subsarcolemmal nuclei. Presence of some hypotrophic fibres. No degenerative aspects are observed. No pathological accumulation of PAS positive material. Predominance of type I fibre. Relative hypotrophy of type II fibres. | Severe alteration of the tissue organisation due to abundant peri and endomysial connective tissue, fibre anisometry with normo-, hyppo-, atrophic and various hypertrophic fibres some of which with splittings, central nuclei and rare degenerate fibres. |
Conclusion: Modest, non-specific, myogenic changes. | Conclusion: Morphological features indicative of a severe dystrophic degeneration, compatible with the diagnosis of congenital muscular dystrophy |
