Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

Beckmann, JS; Richard, I; Broux, O; Fougerousse, F; Allamand, V; Chiannilkulchai, N; Lim, LE; Duclos, F; Bourg, N; Brenguier, L; Pasturaud, P; Quetier, F; Roudaut, C; Sunada, Y; Meyer, J; Dincer, PERVİN; Lefranc, G; Merlini, L; Topaloglu, H; Tome, FMS; Cohen, D; Jackson, CE; Campbell, KP; Fardeau, M

doi:10.1016/s0960-8966(96)00386-0

Identification of muscle-specific calpain and beta-sarcoglycan genes in progressive autosomal recessive muscular dystrophies

Beckmann J., Richard I., Broux O., Fougerousse F., Allamand V., Chiannilkulchai N., ...More

NEUROMUSCULAR DISORDERS, vol.6, no.6, pp.455-462, 1996 (SCI-Expanded, Scopus)

Publication Type: Article / Article
Volume: 6 Issue: 6
Publication Date: 1996
Doi Number: 10.1016/s0960-8966(96)00386-0
Journal Name: NEUROMUSCULAR DISORDERS
Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Page Numbers: pp.455-462
Keywords: limb girdle muscular dystrophy, LGMD, positional cloning, LINKAGE MAP, MUTATIONS, REGION, CHROMOSOME-15, ADHALIN, HETEROGENEITY, DEFICIENCY, EXPRESSION
Hacettepe University Affiliated: Yes

Abstract

The autosomal recessive forms of limb-girdle muscular dystrophies are encoded by at least five distinct genes. The work performed towards the identification of two of these is summarized in this report. This success illustrates the growing importance of genetics in modern nosology.