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GDAP1 mutation in autosomal recessive Charcot-Marie-Tooth with pyramidal features

✍ Scribed by Roberta Biancheri; Federico Zara; Pasquale Striano; Marina Pedemonte; Denise Cassandrini; Silvia Stringara; Fiore Manganelli; Lucio Santoro; Angelo Schenone; Emilia Bellone; Carlo Minetti


Publisher
Springer
Year
2006
Tongue
English
Weight
52 KB
Volume
253
Category
Article
ISSN
0340-5354

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Mutations in the myelin protein zero gen
✍ Philippe Latour; FranΓ§oise Blanquet; Eva Nelis; Christine Bonnebouche; FraΕ†oise πŸ“‚ Article πŸ“… 1995 πŸ› John Wiley and Sons 🌐 English βš– 437 KB

Communicated by Jean-Louis Mandel Charcot-Marie-Tooth type 1 (CMT1) disease is an autosomal dominant neuropathy of the peripheral nerve. The majority of CMT 1 cases are due to a duplication of an 1.5-Mb DNA fragment on chromosome 17pl1.2 (CMT la). Micromutations were found in the gene for peripheral