Skip to main content
Figure 3 | BMC Neurology

Figure 3

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

Figure 3

Histological and histochemical (a, b and c) findings in m. gastrocnemius biopsy of a patient carrying a p.Cys30071Arg TTN mutation (family B). Prominent structural changes with variation of fiber size and areas of fibrofatty tissue replacement; the majority of fibers harbor collections of cytoplasmic bodies along with large diffuse polymorphic accumulations of material (a). Some fibers contain rimmed vacuoles (arrows in b). Fiber regions occupied by the cytoplasmic bodies are devoid of oxidative activity (c). Resin semithin section shows typical cytoplasmic bodies (d). Stains: a: modified trichrome; b: H&E; c: NADH; d: semithin section stained with toluidine blue.

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us