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This is the first magnetic resonance imaging (MRI) report of nemaline myopathy in which muscle atrophy was not apparent clinically in the lower extremities because of subcutaneous fat. The patient is a 38-year-old woman who was admitted to our hospital because of muscle weakness of the four extremities. Until the age of 17 years, she was asymptomatic except that her running speed was slow. The T1-weighted image of muscle MRI at the mid-thigh level showed hyperintensity of the quadriceps femoris muscle and relatively spared hamstring muscle. The T2-weighted image of muscle MRI at the maximum diameter of the lower leg showed hyperintensity of the tibialis anterior muscle and a relatively spared triceps surae muscle. The biopsy specimen of the right deltoid muscle showed nemaline bodies and type II fiber deficiency.

Magnetic Resonance Imaging Findings of the Skeletal Muscle of a Patient with Nemaline Myopathy.