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Figure 1 | Orphanet Journal of Rare Diseases

Figure 1

From: Case report of intrafamilial variability in autosomal recessive centronuclear myopathy associated to a novel BIN1 stop mutation

Figure 1

Clinical, histological and MRI features in the patients. (A) Pedigree of the consanguineous family of both ARCNM patients. Segregation of the mutation (c.1717C > T in NM_139343) in the tested individuals is depicted as black dots; both patients are homozygous for the mutation while all four parents are heterozygous. Other individuals were not tested. The related parents have 3 brothers and 2 sisters, and the male patient has 1 sister and 2 brothers. (B) Photos of both patient 1 (on the left) and patient 2 (right). (C) T1 weighted coronal whole body MRI images of patients 1 (left) and 2 (right) and axial displays of the femoral and the lower leg regions (below, middle panel) demonstrate prominent fatty involvement of soleus [2], tibialis anterior, peroneal and extensor muscles [1], but sparing of the gastrocnemius [3]. All thigh muscle groups were affected without selective pattern. Imaging of upper limb demonstrated relative sparing of triceps [1] and arrows, left picture, lower panel], subscapularis [2] and flexor [3] and arrows, right picture, lower panel] muscle groups. (D) Muscle biopsy from patient 2 showing small rounded fibers with a high percentage of central nuclei, variable fiber size, extensive fibrosis, and (F) electron microscopy image showing myofibrillar disorganization. (E) Muscle biopsy of patient 2 with normal Dystrophin labeling.

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