Muscle & nerve 2017 10 05() doi 10.1002/mus.25981
To analyze and describe atypical presentations of Charcot Marie Tooth disease type 4C (CMT 4C).
We present clinical and physiologic features of five patients with CMT4C caused by biallelic private mutations of SH3TC2.
All patients manifested scoliosis and nerve conduction studies in the demyelinating range. All exhibited signs of motor impairment within the first years of life. We describe two or more different genetic diseases in the same patient, atypical presentations of CMT and 3 new mutations in CMT4C patients.
A new era of unbiased genetic testing has led to this small case series of individuals with CMT4C, and highlights the recognition of different genetic diseases in CMT4C patients for accurate diagnosis, genetic risk identification and therapeutic intervention. The phenotype of CMT4C, in addition, appears to be enriched by a number of features unusual for the broad CMT category. This article is protected by copyright. All rights reserved.