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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Myoimaging in the NGS era: the discovery of a novel mutation in MYH7 in a family with distal myopathy and core-like features – a case report

Fig. 2

Myo-imaging in family members. Muscle MRI findings at calf level in III.4 (a) and III.2 (b) were obtained using conventional T1-weighted spin-echo transverse images. Both scans show the selective involvement of the tibialis anterior and, in III.2, of the extensor digitorium longus with sparing of gastrocnemii and soleus. Follow-up muscle MRI after 3 years in III.4 (c–e) and III.2 (f–h) obtained using conventional T1-weighted spin-echo transverse images at thigh (c, f), calf (d, g) and upper girdle (e–h) level. The findings in III.4 are almost stable whereas in III.2 it is possible to observe the additional involvement of the adductor magnus and vastus intermedius at thigh level (f) and of the medial gastrocnemius at calf level (g). The scans of the upper girdle reveal involvement of the deltoid and sternocleidomastoid muscles

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BMC Medical Genetics

ISSN: 1471-2350

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