Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease

Journal article

Peer reviewed

D Pareyson, D Menichella, S Botti, A Sghirlanzoni, E Fallica, M Mora, C Ciano, M E Shy and F Taroni

Annals of the New York Academy of Sciences, Vol.883(1), pp.477-480

09/14/1999

DOI: 10.1111/j.1749-6632.1999.tb08615.x

PMID: 10586278

View Online

no abstract

Sequence Deletion

Frameshift Mutation

Humans

Male

Neural Conduction

Charcot-Marie-Tooth Disease - pathology

Charcot-Marie-Tooth Disease - genetics

Sural Nerve - pathology

Pedigree

Myelin P0 Protein - genetics

Adult

Female

Heterozygote

Consanguinity

Charcot-Marie-Tooth Disease - physiopathology

Codon, Terminator

Title: Subtitle: Heterozygous null mutation in the P0 gene associated with mild Charcot-Marie-Tooth disease
Creators: D Pareyson - Istituto Nazionale Neurologico C. Besta, Milan, Italy. dpareys@tin.it
D Menichella
S Botti
A Sghirlanzoni
E Fallica
M Mora
C Ciano
M E Shy
F Taroni
Resource Type: Journal article
Publication Details: Annals of the New York Academy of Sciences, Vol.883(1), pp.477-480
DOI: 10.1111/j.1749-6632.1999.tb08615.x
PMID: 10586278
NLM abbreviation: Ann N Y Acad Sci
ISSN: 0077-8923
eISSN: 1749-6632
Publisher: Blackwell Publishing Ltd; United States
Grant note: 924 / Telethon
Language: English
Date published: 09/14/1999
Academic Unit: Neurology; Molecular Physiology and Biophysics; Stead Family Department of Pediatrics; Iowa Neuroscience Institute
Record Identifier: 9984020707802771

16 Record Views