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

Atıf İçin Kopyala

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

NEUROMUSCULAR DISORDERS, cilt.6, sa.6, ss.455-462, 1996 (SCI-Expanded)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 6 Sayı: 6
Basım Tarihi: 1996
Doi Numarası: 10.1016/s0960-8966(96)00386-0
Dergi Adı: NEUROMUSCULAR DISORDERS
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.455-462
Anahtar Kelimeler: limb girdle muscular dystrophy, LGMD, positional cloning, LINKAGE MAP, MUTATIONS, REGION, CHROMOSOME-15, ADHALIN, HETEROGENEITY, DEFICIENCY, EXPRESSION
Hacettepe Üniversitesi Adresli: Evet

Özet

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.