Figure 1.

Whole exome sequencing identifies two CACNA1H missense mutations associated with severe congenital amyotrophy. (a) Whole-body magnetic resonance T1 weighted images (T1W1) 3T (axial view) of the thigh at 6 weeks old revealed severe muscle amyotrophy. No muscle was visualized in the anterior compartment. Her right biceps femoris (arrow) measured 8 × 5 mm at its widest. (b) For comparison, a T1WI (axial view) from a hypotonic boy with nemaline myopathy was performed at 4 months old. His biceps femoris measured 14 × 9 mm. F: femur. (c) Family pedigree chart. Filled and open symbols indicate affected and unaffected individuals, respectively. (d) Location of the p.V681L (blue circle) and p.D1233H mutations (orange circle) within the secondary membrane topology of Ca_v3.2 channel.