𝔖 Bobbio Scriptorium
✦   LIBER   ✦

A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot–Marie–Tooth disease in an Amish family

✍ Scribed by B Xin; E Puffenberger; L Nye; M Wiznitzer; H Wang

Book ID
110888620
Publisher
John Wiley and Sons
Year
2008
Tongue
English
Weight
252 KB
Volume
74
Category
Article
ISSN
0009-9163

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Novel mutations in the connexin 32 gene
Novel mutations in the connexin 32 gene associated with X-linked Charcot-Marie tooth disease
✍ Charles C. Tan; Peter J. Ainsworth; Angelika F. Hahn; Patrick M. MacLeod 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 480 KB 👁 2 views

by R d G. Worton Charcot-Marie tooth disease, a pathologically and genetically heterogeneous group of disorders that causes a progressive neuropathy, is characterized by weakness and atrophy, primarily in peroneal and distal leg muscles. It is defined patholog-Mutation leads to 10s:. of this Mae 111

Mutations in the myelin protein zero gen
Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B
✍ Philippe Latour; Françoise Blanquet; Eva Nelis; Christine Bonnebouche; Fraņoise 📂 Article 📅 1995 🏛 John Wiley and Sons 🌐 English ⚖ 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

A Novel Mutation (D305V) in the early gr
A Novel Mutation (D305V) in the early growth response 2 gene is associated with severe Charcot-Marie-Tooth type 1 disease
✍ Emilia Bellone; Emilio Di Maria; Silvia Soriani; Alessandra Varese; Laura Lamba 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 3 views

Hereditary motor and sensory neuropathies (HMSN) comprises a wide clinical spectrum of related disorders with defects in peripheral nerve myelination. Charcot-Marie-Tooth type 1 (CMT1) is the most common form and is usually a mild disease with onset in the first or second decade; however there is a

Four novel mutations of the connexin 32
Four novel mutations of the connexin 32 gene in four Japanese families with Charcot-Marie-Tooth disease type 1
✍ Ikegami, Tohru; Lin, Changqing; Kato, Mitsuhiro; Itoh, Aiko; Nonaka, Ikuya; Kuri 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 12 KB 👁 2 views

DNA-based mutation analysis on the connexin 32 gene was performed in 49 families with Charcot-Marie-Tooth disease (CMT) type 1 but without duplication involving the chromosomal region, 17p12-p11.2. Mutations were identified in five of the 49 families, and four of the five mutations were hitherto und