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Corticospinal tract MRI hyperintensity in X-linked Charcot-Marie-Tooth Disease

✍ Scribed by Jan Kassubek; Volker Bretschneider; Anne-Dorte Sperfeld


Book ID
116673477
Publisher
Elsevier Science
Year
2005
Tongue
English
Weight
142 KB
Volume
12
Category
Article
ISSN
0967-5868

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We studied 29 families with X-linked dominant CMT (CMTX1) neuropathy. Twenty-five families showed mutations in the coding region of the connexin32 (Cx32) gene. The mutations included five nonsense mutations, 17 missense mutations, two medium size deletions and one insertion. Most missense mutations