Fig. 35.1 Muscle biopsy. Muscle biopsy of myofibrillar myopathy – myotilinopathy. Haematoxylin-Eosin stained sections (a, d) show variation in fibre size, frequent rimmed vacuoles and eosinophilic inclusions in many of…
Fig. 33.1 Neurophysiology: long exercise test. This shows the change in compound muscle action potential (CMAP) amplitude over 50 min following 5 min of exercise of ADM. The maximum decrement…
Fig. 30.1 Bilateral ptosis and external ophthalmoplegia in Kearns-Sayre Syndrome: bilateral partial ptosis (a) with restriction of ocular movements in all directions of gaze as patient attempts to look up…
Fig. 31.1 Quadriceps needle biopsy from a 3 year old boy with Duchenne muscular dystrophy carrying a hemizygous nonsense mutation in exon 32 of the dystrophin gene predicted to cause…
Fig. 28.1 MRI left elbow – T1w (a), T2w (b) and T1 post-gadolinium (c, d). A 10 mm, nodular, minimally enhancing mass is seen to arise from the left posterior…
Fig. 49.1 (a) Repetitive stimulation (RNS) of the accessory nerve at 3/s with recording from trapezius showed a small CMAP amplitude (baseline to negative peak) of 0.9 mV and a…
Fig. 48.1 (a) Muscle MRI demonstrating fatty replacement of most thigh muscles with relative sparing of the sartorius and gracilis (arrows) and a central area of abnormal signal within the…
Fig. 46.1 Schematic representation of the genetic mechanisms associated with facioscapulohumeral muscular dystrophy (FSHD). Normal D4Z4 alleles in chromosome 4 have 11 to 100 repeat units. In individuals with FSHD,…
Fig. 47.1 (a) Muscle MRI showed no abnormalities. (b) Cytochrome c oxidase (COX) staining showed a preserved two-fibre pattern. (c) Electron microscopy showed several fibres with one or more small…
Fig. 39.1 Haematoxylin-Eosin stained section (a) shows marked variation in fibre size with disorganized internal cytoarchitecture in a proportion of the large fibres. NADH histochemical preparation (b) highlights the whorled…
