Abstract
A 2-year-old boy and an 11-year-old girl showing marked weakness in proximal and distal muscles, atrophy of distal legs, and clubfoot were investigated for congenital spinal muscular atrophy (SMA) as suggested by EMG and muscle biopsy. Both children, who had normal SMN1 gene testing, harbored mutations (p.P97R; p.R232C) in TRPV4 .1 MRI of muscle showed similar severe changes preserving biceps femoris in the lateral compartment …
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