Human Molecular Genetics, Vol 5, 815-820, Copyright © 1996 by Oxford University Press
MR Passos-Bueno, ES Moreira, M Vainzof, SK Marie and M Zatz
Limb-girdle muscular dystrophies (LGMDs) represent a clinically
heterogeneous group of genetic diseases characterised by progressive
weakness of the pelvic and shoulder girdle muscles. An autosomal dominant
form (LGMD1A) has been mapped at 5q22.3-31.3, while five genes responsible
for the autosomal recessive forms were mapped respectively at: 15q15.1
(LGMD2A), 2p12-p16 (LGMD2B), 13q12 (LGMD2C), 17q12-q21.33 (LGMD2D) and 4q12
(LGMD2E). Among 17 autosomal recessive (AR) LGMD Brazilian families with at
least three affected sibs, we were able to exclude four families (one mild
and three severe) from all these five known loci as well as from the
dystroglycan and syntrophin genes. Therefore, we have performed a
genome-wide search in two of the severely affected families, which are
alpha-sarcoglycan negative. We demonstrate linkage of these two Duchenne
muscular dystrophy-like families to 5q33-34, and propose to classify them
as LGMD2F. In addition, linkage analysis in the other two genealogies that
are alpha- sarcoglycan positive suggests that there is at least one other
gene which causes AR LGMD.
ARTICLES
Linkage analysis in autosomal recessive limb-girdle muscular dystrophy (AR LGMD) maps a sixth form to 5q33-34 (LGMD2F) and indicates that there is at least one more subtype of AR LGMD
Departamento de Biologia, Instituto de Biociencias, Sao Paulo, Brazil.
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