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Charcot–marie–tooth neuropathies: From clinical description to molecular genetics
Author(s) -
Ionasescu Victor V.
Publication year - 1995
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.880180302
Subject(s) - genetics , missense mutation , point mutation , biology , nonsense mutation , molecular genetics , gene duplication , x linked recessive inheritance , medical genetics , mutation , gene , x chromosome
Ninety‐five families with Charcot‐Marie‐Tooth (CMT) neuropathies were studied clinically, electrophysiologically (MNCVs and EMGs), and by molecular genetics. Fifty‐four families (56.8%) were type 1A mapped at 17p11.2‐p12 and DNA duplication was present in 50 (92.6% of CMT1A families). One family with type 1B (1.1%) mapped at 1q22‐q23 showed a point mutation of the myelin Po gene. Eighteen families (18.9%) were type CMT2 based on electrophysiological studies. Molecular genetics was not yet conclusive. Twenty CMT families were with X‐linked dominant inheritance ( CMTX1 ) (21.1%) mapped at Xq13.1 and connexin 32 (CX32) point mutations were present in 15 families (75%) (five nonsense mutations, eight missense mutations, two deletions). Two CMT families (2.1%) with X‐linked recessive inheritance showed no point mutations of CX32 and their mapping was different from CMTX1 , respectively at Xp22.2 for CMTX2 and at Xq26 for CMTX3 .© 1995 John Wiley &Sons, Inc.