Charcot–Marie–Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges

Nivedita U. Jerath, Ami Mankodi, Thomas O. Crawford, Christopher Grunseich, Hasna Baloui, Chioma Nnamdi-Emeratom, Alice B. Schindler, Terry Heiman-Patterson, Roman Chrast, Michael E. Shy

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Introduction: This study analyzes and describes atypical presentations of Charcot–Marie–Tooth disease type 4C (CMT4C). Methods: We present clinical and physiologic features of 5 patients with CMT4C caused by biallelic private mutations of SH3TC2. Results: All patients manifested scoliosis, and nerve conduction study indicated results in the demyelinating range. All patients exhibited signs of motor impairment within the first years of life. We describe 2 or more different genetic diseases in the same patient, atypical presentations of CMT, and 3 new mutations in CMT4C patients. Discussion: 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. Muscle Nerve 57: 749–755, 2018.

Original languageEnglish (US)
Pages (from-to)749-755
Number of pages7
JournalMuscle and Nerve
Issue number5
StatePublished - May 2018


  • CMT4C
  • Charcot–Marie Tooth disease
  • SH3TC2
  • autosomal recessive
  • hereditary motor and sensory neuropathy

ASJC Scopus subject areas

  • Physiology
  • Clinical Neurology
  • Cellular and Molecular Neuroscience
  • Physiology (medical)


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