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Figure 5 | BMC Neurology

Figure 5

From: Exome sequencing identifies titin mutations causing hereditary myopathy with early respiratory failure (HMERF) in families of diverse ethnic origins

Figure 5

Ultrastructural images of muscle biopsy in patients with TTN p.Cys30071Arg mutation. Early lesions originate at the Z-lines. Semi-dense filamentous material arises perpendicularly to the Z-lines and extends to the entire sarcomeric length (a and c). Multiple globular inclusions composed of the same semi-dense filamentous material interspersed between preserved sarcomeres (b) or in fibers with sarcomeric disorganization (c). A fiber area with focal dissolution of myofibrils and collections of nemaline bodies (d). An atrophic fiber with complete sarcomeric destruction is replaced by remnants of filaments and collections of small nemaline bodies (e). Typical cytoplasmic bodies surrounded by clear halo and autophagic vacuoles in a severely damaged fiber (f). Collections of sarcoplasmic tubulofilaments running in parallel (g). Intranuclear tubulofilaments (h). Intranuclear tubulofilaments at higher magnification are seen randomly oriented (i).

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