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Fig. 1 | Acta Neuropathologica Communications

Fig. 1

From: A recurrent RYR1 mutation associated with early-onset hypotonia and benign disease course

Fig. 1

Unspecific histological findings on muscle biopsies. A Histological and ultrastructural investigations on muscle sections revealed inconsistent and unspecific findings including fiber size variability on H&E (families 1 and 7), mitochondrial mispositioning on Gomori trichrome and NADH-TR (white arrows, families 1 and 7), atrophy of dark type I fibers on NADH-TR (family 1), predominance of type I fibers on NADH-TR and ATPase (family 6), as well as crystalloid inclusions within mitochondria (white arrow and zoom, family 1) and lipid droplets on EM (yellow arrows, families 1 and 4). Sarcomeric disarray and Z-band streaming were not observed. B Pedigrees of the nine families and exemplary electropherograms of healthy and affected individuals indicating the position of the RYR1 mutation. WT indicates molecular tested healthy individuals, and grey symbols depict reportedly affected individuals without genetic test. C Skeletal muscle cDNA sequence of the index patient from family 8 encompassing RYR1 exons 88 and 89 and excluding a major effect of the mutation on splicing

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