✦ LIBER ✦

Segregation analysis in families with Charcot-Marie-Tooth disease allows reclassification of putative disease causing mutations

✍ Scribed by Østern, Rune; Fagerheim, Toril; Hjellnes, Helene; Nygård, Bjørn; Mellgren, Svein; Nilssen, Øivind

Book ID: 121565445
Publisher: BioMed Central
Year: 2014
Tongue: English
Weight: 303 KB
Volume: 15
Category: Article
ISSN: 1471-2350
DOI: 10.1186/1471-2350-15-12

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Mutation in connexin 32 causes charcot–m

Mutation in connexin 32 causes charcot–marie–tooth disease in a large Chinese family

✍ Fuqiang Guo; Yi Shi; Ying Lin; Xiaoqi Liu; Bin Liu; Ying Liu; Yang Yang; Fang Lu 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 475 KB

## Abstract The purpose was to study the clinical features and genetics of a large Chinese family with Charcot–Marie–Tooth (CMT) disease. A genome‐wide linkage scan using Applied Biosystems v. 2.5 411 short tandem repeat (STR) markers was performed in this family. Mutation screening was conducted o

Screening for connexin 32 mutations in C

Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance

✍ K. Silander; Päivi Meretoja; Helena Pihko; Vesa Juvonen; Jouni Issakainen; Pertt 📂 Article 📅 1997 🏛 Springer 🌐 English ⚖ 71 KB

Selective defects in channel permeabilit

Selective defects in channel permeability associated with Cx32 mutations causing X-linked Charcot–Marie–Tooth disease

✍ Massimiliano Bicego; Sabina Morassutto; Victor H. Hernandez; Marcello Morgutti; 📂 Article 📅 2006 🏛 Elsevier Science 🌐 English ⚖ 617 KB

A novel mutation in LRSAM1 causes axonal

A novel mutation in LRSAM1 causes axonal Charcot-Marie-Tooth disease with dominant inheritance

✍ Engeholm, Maik; Sekler, Julia; Schöndorf, David C; Arora, Vineet; Schittenhelm, 📂 Article 📅 2014 🏛 BioMed Central 🌐 English ⚖ 323 KB

Mutation of a putative protein degradati

Mutation of a putative protein degradation gene LITAF/SIMPLE in Charcot-Marie-Tooth disease 1C

✍ Street, V. A.; Bennett, C. L.; Goldy, J. D.; Shirk, A. J.; Kleopa, K. A.; Tempel 📂 Article 📅 2003 🏛 Lippincott Williams and Wilkins 🌐 English ⚖ 663 KB

Spectrum of mutations in Finnish patient

Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies

✍ Kaisa Silander; Päivi Meretoja; Vesa Juvonen; Jaakko Ignatius; Helena Pihko; Ari 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 304 KB 👁 2 views

Our patient material included families and sporadic patients of Finnish origin with the diagnosis of Charcot-Marie-Tooth (CMT) disease types 1 and 2, Dejerine-Sottas syndrome (DSS), and hereditary neuropathy with liability to pressure palsies (HNPP). We screened for mutations in the peripheral myeli