As reported in literature, AMACR gene is associated with sensorimotor neuropathy, muscle stiffness, and difficulty in coordinating movements.5 Mutations found in AMACR gene show a variety of phenotypes, including seizures, visual failure, sensorimotor neuropathy, spasticity, and migraine.7 After sequencing all the genes related to Charcot-Marie-Tooth (CMT2
) disease, the current study was planned to find the causative mutation by linkage analysis.
We screened for SH3TC2 pathogenic variants in 84 AR or sporadic CMT probands, PMP2 pathogenic variants in 39 AD or sporadic CMT1 probands, and BSCL2 pathogenic variants in 50 AD or sporadic CMT2
probands, using polymerase chain reaction and Sanger sequencing.
CMT types 1 and 2 represent by far the largest proportion of patients; these classifications are based off features of demyelinating (CMT1) or axonal (CMT2
Although studies have focused on the relationship between MFN2 gene polymorphisms and many diseases, such as essential hypertension (11) and axonal Charcot-Marie-Tooth disease (CMT2
) (12), its correlation with ALF remains unknown.
CMT is mainly divided into demyelinating neuropathy (CMT1) and axonal neuropathy (CMT2
) according to electrophysiological and histopathological features.
The disease is classified into demyelinating (CMT1) or axonal (CMT2
) based on electrophysiological and pathological findings.
Charcot Marie Tooth 1 (HMSN type I according to Dyck's classification), comprises the group of demyelinating peripheral neuropathies and CMT2
(HMSN type II) comprises the axonal peripheral neuropathies (3).
The basis of this recommendation is classifying CMT according to the NCV findings into CMT1, CMT2
, or intermediate between CMT1 and CMT2
CMT has two main groups, namely, CMT disease type 1 (CMT1) and CMT disease type 2 (CMT2
Three main forms of axonal CMT diseases are classified according to genetic inheritance: dominant (CMT2
), recessive (CMT4), and recessive X-linked (CMTX).
So, this study aimed to characterize the condition of oral health and its impact on quality of life as well as to evaluate signs and symptoms of temporomandibular disorders, bruxism, and masticatory performance in individuals with CMT2
disease from a multigenerational family.