Article
Characterisation of Patients with SH3TC2 Associated Neuropathy in an Indian Cohort.
Neurology India - 1 Jan 2000
Nagappa Madhu, Sharma Shivani, Govindaraj Periyasamy, Chickabasaviah Yasha T, Siram Ramesh, Shroti Akhilesh, Seshagiri Doniparthi V, Debnath Monojit, Sinha Sanjib, Bindu Parayil S, Taly Arun B
Abstract excerpt
Background: SH3TC2 variations lead to demyelinating recessive Charcot-Marie-Tooth (CMT) disease, which is commonly associated with early-onset scoliosis and cranial neuropathy. Data from Indian ethnicity is limited. Objective: We aim to report the characteristics of patients with SH3TC2-associated neuropathy from an Indian cohort. Patients and Methods: Data of five unrelated subjects with SH3TC2 variations were...
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