✦ LIBER ✦

Variability of charcot-marie-tooth disease

✍ Scribed by Walter G. Bradley

Publisher: John Wiley and Sons
Year: 1981
Tongue: English
Weight: 118 KB
Volume: 9
Category: Article
ISSN: 0364-5134
DOI: 10.1002/ana.410090518

No coin nor oath required. For personal study only.

📜 SIMILAR VOLUMES

X-linked Charcot-Marie-Tooth disease: Mo

X-linked Charcot-Marie-Tooth disease: Molecular analysis of interfamilial variability

✍ Niewiadomski, Laura A.; Kelly, Thaddeus E. 📂 Article 📅 1996 🏛 John Wiley and Sons 🌐 English ⚖ 340 KB 👁 1 views

This report describes two families with type 1 Charcot-Marie-Tooth disease (CMTX), or hereditary motor sensory neuropathy type 1. Pedigree analysis is consistent with Xlinked recessive inheritance in one family and X-linked dominant inheritance in the second. In the first family, a mutation in the c

Recessive Charcot-Marie-Tooth disease

✍ James R. Lupski 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 219 KB

HLA in charcot-marie-tooth disease

✍ Lowell L. Williams 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 102 KB

Prenatal diagnosis of Charcot-Marie-toot

Prenatal diagnosis of Charcot-Marie-tooth disease

✍ Roger V. Lebo 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 41 KB 👁 2 views

Charcot-Marie-Tooth disease (CMT; Hereditary Motor and Sensory Neuropathy, HMSN), the most common genetic neuropathy, with an incidence of 1/2600 in Norway (Skre, 1974), has been reported in individuals on every continent. The multiple CMT disease categories result from mutations in at least eight d

Malignant melanoma and charcot-marie-too

Malignant melanoma and charcot-marie-tooth disease

✍ Greene, Mark H. ;Mead, Gene D. ;Reimer, Ronald R. ;Bergfeld, Wilma F. ;Fraumeni, 📂 Article 📅 1980 🏛 John Wiley and Sons 🌐 English ⚖ 189 KB

Atypical phenotype of Charcot–Marie–Toot

Atypical phenotype of Charcot–Marie–Tooth disease type 1A

✍ Tatsufumi Murakami; Hiroyuki Oomori; Akio Hara; Eiichiro Uyama; Shuji Mita; Mako 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 128 KB

Two sisters with a Charcot-Marie-Tooth disease type 1A (CMT1A) duplication, who had an unusual CMT1A clinical phenotype, are described. The 63-year-old proband presented with dysesthesia on the inner side of the right leg. Neurological examination revealed a localized sensory disturbance in the lowe