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G.P.86 X-linked Charcot–Marie–Tooth disease with c.22A>C missense mutation in the GJB1 gene in Koreans

✍ Scribed by Park, H.J.; Jeong, J.L.; Choi, Y.C.


Book ID
119333842
Publisher
Elsevier Science
Year
2012
Tongue
English
Weight
47 KB
Volume
22
Category
Article
ISSN
0960-8966

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✍ Petr Vondracek; Pavel Seeman; Marketa Hermanova; Lenka Fajkusova 📂 Article 📅 2005 🏛 John Wiley and Sons 🌐 English ⚖ 74 KB

## Abstract We report a family with X‐linked dominant Charcot–Marie–Tooth disease (CMTX1). Three affected family members are described, who underwent detailed clinical, electrophysiological, molecular genetic, and histopathological studies. A novel isoleucine at position 127 with serine (Ile127Ser)