Table 1.
Nerve conduction studies in a 2‐year‐old patient with a novel TRPV4 R616G mutation.
| Peroneal | Tibial | Sural | Median | Ulnar | ||||||
|---|---|---|---|---|---|---|---|---|---|---|
|
CMAP (>2 mV) |
MNCV (>39 m/s) |
CMAP (>2 mV) |
MNCV (>39 m/s) |
SAP (>5 μV) |
CMAP (>4 mV) |
MNCV (>49 m/s) |
SAP (>9 μV) |
CMAP (>4 mV) |
MNCV (>49 m/s) |
SAP (>9 μV) |
| NR | NR | NR | NR | NR | 3.6 | 41 | 9.4 | 2.8 | 47 | 7.4 |
Normal values are shown in parentheses. Peroneal, tibial, and sural nerves were bilaterally non‐recordable. For median and ulnar nerves, the recordings from the right side are shown. Abbreviations: CMAP, compound muscle action potential (distal stimulation site); MNCV, motor nerve conduction velocity; SAP, sensory action potential; NR, not recordable.