Open AccessCharcott-Marie-Tooth Disease Type 4c Caused from a Pathogenic Homozygous c.1897delG (p.Ala633Profs * 12) Variation in The SH3TC2 Gene
Author(s) -
Fatih Kurt,
AUTHOR_ID,
Mustafa Doğan,
Recep Eröz,
AUTHOR_ID,
AUTHOR_ID
Publication year - 2021
Publication title -
hong kong journal of paediatrics research
Language(s) - English
Resource type - Journals
eISSN - 2663-7987
pISSN - 2663-5887
DOI - 10.37515/pediatric.5887.4301
Subject(s) - tooth disease , polyneuropathy , medicine , scoliosis , hereditary motor and sensory neuropathy , kyphosis , peripheral neuropathy , disease , motor nerve , neuromuscular disease , dermatology , genetics , pathology , surgery , anatomy , biology , endocrinology , radiography , diabetes mellitus
Charcot-Marie-Tooth (CMT) is a group of diseases with peripheral nerve involvement known as hereditary sensory and motor neuropathy (1). It is the most common inherited neuromuscular disorder. CMT usually begins to show symptoms in the first 10 years and 20s. Clinical symptoms are bilateral, symmetrical sensory and motor polyneuropathy. Its diagnosis is based on clinical findings, EMG and molecular genetic tests. Its treatment is symptomatic. In this article, a CMT Type 4c patient with scoliosis, kyphosis, bilateral sensory and motor polyneuropathy and having SH3TC2 mutation, which is very rare in genetic analysis, is presented.