Article
Charcot-Marie-Tooth Disease type 4C: Novel mutations, clinical presentations, and diagnostic challenges.
Muscle & nerve - 1 May 2018
Jerath Nivedita U, Mankodi Ami, Crawford Thomas O, Grunseich Christopher, Baloui Hasna, Nnamdi-Emeratom Chioma, Schindler Alice B, Heiman-Patterson Terry, Chrast Roman, Shy Michael E
Abstract excerpt
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...
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