Axonal Charcot ‐Marie‐Tooth neuropathy concurrent with distal and proximal weakness by translational elongation of the 3’ UTR in NEFH

This study also identified a de novo c.3015_3027dup frameshift mutation predicting p.Lys1010Glnfs*57 in NEFH from a CMT2 family with an atypical clinical symptom of prominent proximal weakness. This mutation is located near the previously reported frameshift mutations, suggesting a mutational hotspot. Lower limb MRI revealed marked hyperintense signal changes in the thigh muscles compared to those in the calf muscles. Therefore, this study suggests that the stop loss and translational elongations by the 3’ UTR of the NEFH mutations may be a relatively frequent genetic cause of axonal peripheral neuropathy with the specific characteristics of proximal dominant weakness.
Source: Journal of the Peripheral Nervous System - Category: Neurology Authors: Tags: CASE REPORT Source Type: research