当前位置： SCI文献检索 > NATURE GENETICS期刊下所有文献 > Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Perlecan, the major proteoglycan of basement membranes, is altered in patients with Schwartz-Jampel syndrome (chondrodystrophic myotonia).

Abstract：

:Schwartz-Jampel syndrome (SJS1) is a rare autosomal recessive disorder characterized by permanent myotonia (prolonged failure of muscle relaxation) and skeletal dysplasia, resulting in reduced stature, kyphoscoliosis, bowing of the diaphyses and irregular epiphyses. Electromyographic investigations reveal repetitive muscle discharges, which may originate from both neurogenic and myogenic alterations. We previously localized the SJS1 locus to chromosome 1p34-p36.1 and found no evidence of genetic heterogeneity. Here we describe mutations, including missense and splicing mutations, of the gene encoding perlecan (HSPG2) in three SJS1 families. In so doing, we have identified the first human mutations in HSPG2, which underscore the importance of perlecan not only in maintaining cartilage integrity but also in regulating muscle excitability.

journal_name

Nat Genet

journal_title

Nature genetics

authors

Nicole S,Davoine CS,Topaloglu H,Cattolico L,Barral D,Beighton P,Hamida CB,Hammouda H,Cruaud C,White PS,Samson D,Urtizberea JA,Lehmann-Horn F,Weissenbach J,Hentati F,Fontaine B

doi

10.1038/82638

keywords:

subject

Has Abstract

pub_date

2000-12-01 00:00:00

pages

480-3

issue

4

eissn

1061-4036

issn

1546-1718

journal_volume

26

pub_type

杂志文章

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