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

被引：9

作者：

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, P

Lefranc, G

Merlini, L

Topaloglu, H

Tome, FMS

Cohen, D

Jackson, CE

Campbell, KP

Fardeau, M

机构：

[1] UNIV IOWA, HOWARD HUGHES MED INST, IOWA CITY, IA 52242 USA

[2] HACETTEPE UNIV, ANKARA, TURKEY

[3] UMR CNRS 9942, MONTPELLIER, FRANCE

[4] INST ORTOPED RIZZOLI, BOLOGNA, ITALY

[5] INSERM U153, PARIS, FRANCE

[6] FDN JEAN DAUSSET, CEPH, PARIS, FRANCE

[7] HENRY FORD HOSP, DETROIT, MI 48202 USA

来源：

NEUROMUSCULAR DISORDERS | 1996年 / 6卷 / 06期

关键词：

limb girdle muscular dystrophy; LGMD; positional cloning;

D O I：

10.1016/S0960-8966(96)00386-0

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

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.

引用

页码：455 / 462

页数：8

共 38 条

[1] GENETIC-HETEROGENEITY OF AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY IN A GENETIC ISOLATE (AMISH) AND EVIDENCE FOR A NEW LOCUS
ALLAMAND, V
BROUX, O
BOURG, N
RICHARD, I
TISCHFIELD, JA
HODES, ME
CONNEALLY, PM
FARDEAU, M
JACKSON, CE
BECKMANN, JS
[J]. HUMAN MOLECULAR GENETICS, 1995, 4 (03) : 459 - 463
[2] ALLAMAND V, 1995, AM J HUM GENET, V56, P1417
[3] AZIBI K, 1993, HUM MOL GENET, V2, P1423
[4] A GENE FOR AUTOSOMAL RECESSIVE LIMB-GIRDLE MUSCULAR-DYSTROPHY MAPS TO CHROMOSOME 2P
BASHIR, R
STRACHAN, T
KEERS, S
STEPHENSON, A
MAHJNEH, I
MARCONI, G
NASHEF, L
BUSHBY, KMD
[J]. HUMAN MOLECULAR GENETICS, 1994, 3 (03) : 455 - 457
[5] BECKMANN JS, 1991, CR ACAD SCI III-VIE, V312, P141
[6] LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q
BENOTHMANE, K
BENHAMIDA, M
PERICAKVANCE, MA
BENHAMIDA, C
BLEL, S
CARTER, SC
BOWCOCK, AM
PETRUKHIN, K
GILLIAM, TC
ROSES, AD
HENTATI, F
VANCE, JM
[J]. NATURE GENETICS, 1992, 2 (04) : 315 - 317
[7] IDENTIFICATION OF A NOVEL X-LINKED GENE RESPONSIBLE FOR EMERY-DREIFUSS MUSCULAR-DYSTROPHY
BIONE, S
MAESTRINI, E
RIVELLA, S
MANCINI, M
REGIS, S
ROMEO, G
TONIOLO, D
[J]. NATURE GENETICS, 1994, 8 (04) : 323 - 327
[8] BETA-SARCOGLYCAN (A3B) MUTATIONS CAUSE AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY WITH LOSS OF THE SARCOGLYCAN COMPLEX
BONNEMANN, CG
MODI, R
NOGUCHI, S
MIZUNO, Y
YOSHIDA, M
GUSSONI, E
MCNALLY, EM
DUGGAN, DJ
ANGELINI, C
HOFFMAN, EP
OZAWA, E
KUNKEL, LM
[J]. NATURE GENETICS, 1995, 11 (03) : 266 - 273
[9] THE LIMB-GIRDLE MUSCULAR-DYSTROPHIES - PROPOSAL FOR A NEW NOMENCLATURE - 30TH AND 31ST ENMC INTERNATIONAL WORKSHOPS, NAARDEN, THE NETHERLANDS, HELD 6-8-JANUARY-1995
BUSHBY, KMD
BECKMANN, JS
[J]. NEUROMUSCULAR DISORDERS, 1995, 5 (04) : 337 - 343
[10] ILLEGITIMATE TRANSCRIPTION - TRANSCRIPTION OF ANY GENE IN ANY CELL TYPE
CHELLY, J
CONCORDET, JP
KAPLAN, JC
KAHN, A
[J]. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA, 1989, 86 (08) : 2617 - 2621

← 1 2 3 4 →