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Updated: Apr 1, 2026

Modeling Charcot-Marie-Tooth Disease In Vitro by Transfecting Mouse Primary Motoneurons
Published on: January 7, 2019
Atypical presentation of Charcot-Marie-Tooth disease 1A: A case report
Shilpa D Kulkarni1, Rafat Sayed1, Meenal Garg1
1Department of Pediatric Neurosciences, Bai Jerbai Wadia Hospital for Children, Mumbai, India.
Abstract:
Charcot-Marie-Tooth (CMT) 1A is the most common form of CMT disease and is characterized by duplication of Peripheral myelin protein 22 (PMP22) gene. We report a boy with genetically confirmed CMT1A disease having clinical involvement of hypoglossal and glossopharyngeal nerves, as well as asymmetrical and primarily upper limb involvement. These atypical features widen the clinical spectrum of CMT1A, leading to interesting observations about PMP22 gene related disorders and varied clinical expression of similar genetic mutations.
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