1.
Neurol India
; 63(3): 395-8, 2015.
Artigo
em Inglês
| MEDLINE
| ID: mdl-26053813
RESUMO
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.