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Roussy–Lévy syndrome is a phenotypic variant of Charcot–Marie–Tooth syndrome IA associated with a duplication on chromosome 17p11.2

✍ Scribed by M Auer-Grumbach; S Strasser-Fuchs; K Wagner; E Körner; F Fazekas

Book ID
119468733
Publisher
Elsevier Science
Year
1998
Tongue
English
Weight
364 KB
Volume
154
Category
Article
ISSN
0022-510X

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Charcot-Marie-Tooth disease 1A (CMT1A) a
Charcot-Marie-Tooth disease 1A (CMT1A) associated with a maternal duplication of chromosome 17p11.2→12
✍ M. Upadhyaya; S. H. Roberts; J. Farnham; J. C. MacMillan; A. Clarke; J. P. Heath 📂 Article 📅 1993 🏛 Springer 🌐 English ⚖ 340 KB

We report here the second case of Charcot-Marie-Tooth disease 1A (CMT1A) with a cytogenetically visible de novo direct duplication of 17p11.1-->17p12. A male child who was initially referred for developmental delay and dysmorphism was subsequently shown to have significantly reduced motor nerve cond

Further evidence of a duplication in 17p
Further evidence of a duplication in 17p11.2 in families with recurrence of HMSN Ia (Charcot-Marie-Tooth neuropathy type Ia)
✍ Elisabetta Müller; Maria Luisa Mostacciuolo; Gianfranco Micaglio; Corrado Angeli 📂 Article 📅 1992 🏛 Springer 🌐 English ⚖ 418 KB

Five Italian families with recurrence of cases of Charcot-Marie-Tooth disease (type Ia) were analysed using three closely linked DNA probes that detect polymorphisms in the region 17p11.2. The probe pVAW409R3 detected the presence of a duplication in all the affected subjects, but not in the subject