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 CASE REPORT
Year : 2015  |  Volume : 63  |  Issue : 3  |  Page : 395--398

First reported case of Charcot Marie Tooth disease type 4C in a child from India with SH3TC2 mutation but absent spinal deformities


1 Department of Pediatric Neurology, Deenanath Mangeshkar Hospital, Pune, Maharashtra, India
2 Sahyadri Genetics and Tissue Engineering Facility, Pune, Maharashtra, India
3 Department of Neuropathology, NIMHANS, Bengaluru, Karnataka, India

Correspondence Address:
Umesh Dinkar Kalane
Flat No. 202, G Building, Wonder City Society, Katraz Serve No 75, Pune, Maharashtra
India
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Source of Support: None, Conflict of Interest: None


DOI: 10.4103/0028-3886.158222

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Charcot Marie Tooth (CMT) disease is a group of hereditary motor sensory neuropathies with significant genetic heterogeneity. This disorder has been scarcely reported in the Indian literature. Here, we report a case of the rare but relatively more severe autosomal recessive CMT type 4C disease with a few features that are distinct from its regular presentation. Our patient was proven to have one of the common mutations in the SH3TC2 gene, which has so far not been described in Indian patients.






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Online since 20th March '04
Published by Wolters Kluwer - Medknow