No mutation was detected in the LMNA gene among sporadic Charcot-Marie-Tooth patients.
OBJECTIVE
To intensively investigate sporadic CMT patients, we have analyzed the LMNA gene in this study in a series of 32 unrelated CMT patients.


METHODS
Twelve exons of the LMNA gene were amplified from genetic DNA. PCR products of each exon were analyzed by single strand conformational polymorphism (SSCP).


RESULTS
No abnormal SSCP pattern, suggesting no mutation in our CMT patients, was detected.


CONCLUSIONS
The CMT diseases resulted from the mutations of LMNA gene were rare.
Song
Shu-juan
SJ
Peking University Center of Medical Genetics, Beijing 100083, China.
Zhang
Yuan-zhi
YZ
Chen
Biao
B
Wang
Man-jie
MJ
Wang
Yue-ying
YY
Zhang
Yuan-jin
YJ
Yan
Ming
M
Zhong
Nanbert
N
D002607:Charcot-Marie-Tooth Disease / Q000175:diagnosis / Q000235:genetics*; D005091:Exons; D006801:Humans; D034904:Lamin Type A / Q000235:genetics*; D009154:Mutation; D018807:Polymorphism, Single-Stranded Conformational
C494847:LMNA protein, human; D034904:Lamin Type A