Abstract:
:Charcot-Marie-Tooth disease type 1B (CMT1B) is genetically linked to chromosome 1q21-23. The major peripheral myelin protein gene, P0, has been cloned and localized to the same chromosomal region. P0 is a 28 kDa glycoprotein involved in the compaction of the multilamellar myelin sheet and accounts for more than half of the peripheral myelin protein content. We checked whether P0 is altered in CMT1B, and show here that a 3 basepair deletion in exon 2 of the P0 gene is present in all affected individuals of a CMT1B family. The mutation results in the deletion of serine 34 in the extracellular domain of P0, suggesting that alterations of P0 cause CMT1B.
journal_name
Nat Genetjournal_title
Nature geneticsauthors
Kulkens T,Bolhuis PA,Wolterman RA,Kemp S,te Nijenhuis S,Valentijn LJ,Hensels GW,Jennekens FG,de Visser M,Hoogendijk JEdoi
10.1038/ng0993-35subject
Has Abstract,Author List Incompletepub_date
1993-09-01 00:00:00pages
35-9issue
1eissn
1061-4036issn
1546-1718journal_volume
5pub_type
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