학술논문
Identification of a new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine, on chromosome 1p35-36
Document Type
Academic Journal
Author
Source
American Journal of Human Genetics. June, 1998, Vol. 62 Issue 6, p1439, 7 p.
Subject
Language
ISSN
0002-9297
Abstract
A new locus for a peculiar form of congenital muscular dystrophy with early rigidity of the spine has been identified on chromosome 1p35-36. A genomewide search has been carried out in a large consanguineous family having 11 siblings and three children affected by CMD without merosin deficiency. The affected children are homozygous for several markers on the chromosome. Two other consanguineous families with affected children showed linkage to the same locus and in the three families early rigidity of the spine, reduced vital capacity and scoliosis were found.