✦ LIBER ✦

The phenotypic manifestations of autosomal recessive axonalCharcot–Marie–Tooth due to a mutation in Lamin A/C gene

✍ Scribed by M. Chaouch; Y. Allal; A. De Sandre-Giovannoli; J.M. Vallat; A. Amer-el-Khedoud; N. Kassouri; A. Chaouch; P. Sindou; T. Hammadouche; M. Tazir; N. Lévy; D. Grid

Book ID: 117669678
Publisher: Elsevier Science
Year: 2003
Tongue: English
Weight: 176 KB
Volume: 13
Category: Article
ISSN: 0960-8966
DOI: 10.1016/s0960-8966(02)00196-7

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

Phenotypical features of 11 Moroccan fam

Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-tooth disease associated with mutations in the gdap1 gene

✍ Dubourg, O.; Birouk, N.; Bouhouche, A.; Azzedine, H.; Benomar, A.; Belaïdi, H.; 📂 Article 📅 2007 🏛 Masson Editeur 🌐 English ⚖ 133 KB

Localized Autosomal Recessive Hypotricho

Localized Autosomal Recessive Hypotrichosis Due to a Frameshift Mutation in the Desmoglein 4 Gene Exhibits Extensive Phenotypic Variability within a Pakistani Family

✍ Wajid, Muhammad; Bazzi, Hisham; Rockey, Jonathan; Lubetkin, Jillian; Zlotogorski 📂 Article 📅 2007 🏛 Nature Publishing Group 🌐 English ⚖ 143 KB

A novel mutation in the GDAP1 gene is as

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

✍ B Xin; E Puffenberger; L Nye; M Wiznitzer; H Wang 📂 Article 📅 2008 🏛 John Wiley and Sons 🌐 English ⚖ 252 KB

G.P.11.12 Phenotypical features of 11 Mo

G.P.11.12 Phenotypical features of 11 Moroccan families with autosomal recessive Charcot-Marie-Tooth disease associated with mutations in the GDAP1 gene

✍ A. Bouhouche; H. Azzedine; O. Dubourg; A. Benomar; H. Belaidi; M. Yahyaoui; E. L 📂 Article 📅 2007 🏛 Elsevier Science 🌐 English ⚖ 45 KB

Unusual Charcot–Marie–Tooth phenotype du

Unusual Charcot–Marie–Tooth phenotype due to a mutation within the intracellular domain of myelin protein zero

✍ Christiane Schneider-Gold; Judith Kötting; Jörg T. Epplen; Ralf Gold; Wanda M. G 📂 Article 📅 2010 🏛 John Wiley and Sons 🌐 English ⚖ 933 KB

P29 Behr's syndrome is a mitochondrial d

P29 Behr's syndrome is a mitochondrial disease due to autosomal recessive mutations in the C12orf65 gene

✍ Pyle, A.; Venkateswaran, R.; Bartsakoulia, M.; Boczonadi, V.; Herczegfalvi, A.; 📂 Article 📅 2014 🏛 Elsevier Science 🌐 English ⚖ 55 KB