Limb-girdle muscular dystrophy 2C: Clinical aspects

被引：30

作者：

BenHamida, M

BenHamida, C

Zouari, M

Belal, S

Hentati, F

机构：

来源：

NEUROMUSCULAR DISORDERS | 1996年 / 6卷 / 06期

关键词：

limb-girdle muscular dystrophy; chromosome; 13; gamma-sarcoglycan deficiency; alpha-sarcoglycan variability;

D O I：

10.1016/S0960-8966(96)00395-1

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

The LGMD2C linked to chromosome 13q and related to a 35 KDa dystrophin-associated glycoprotein deficiency, is very similar to Duchenne muscular dystrophy with an autosomal recessive inheritance. It is characterized by a variability of the age of onset, the severity of the evolution and the severity of myopathic changes at the muscle biopsy. This variability was also present in the expression of the alpha-sarcoglycan between the same sibships and between different families.

引用

收藏

页码：493 / 494

页数：2

相关论文

共 12 条

[1]

BENHAMIDA M, 1980, J GENET HUM, V28, P1

[2]

BENHAMIDA M, 1977, 11 WORLD C NEUR AMST, P227

[3]

BENJELLOUNDELLAGI S, 1990, NEUROLOGY, V40, P1903

[4] LINKAGE OF TUNISIAN AUTOSOMAL RECESSIVE DUCHENNE-LIKE MUSCULAR-DYSTROPHY TO THE PERICENTROMERIC REGION OF CHROMOSOME 13Q [J].

BENOTHMANE, K ;

BENHAMIDA, M ;

PERICAKVANCE, MA ;

BENHAMIDA, C ;

BLEL, S ;

CARTER, SC ;

BOWCOCK, AM ;

PETRUKHIN, K ;

GILLIAM, TC ;

ROSES, AD ;

HENTATI, F ;

VANCE, JM .

NATURE GENETICS, 1992, 2 (04) :315-317

[5]

BENOTHMANE K, 1995, AM J HUM GENET, V57, P732

[6] TUNISIAN SEVERE CHILDHOOD MUSCULAR-DYSTROPHY - A NORMAL SPINAL-CORD AND ANTERIOR HORN NEURONS [J].

HAMIDA, MB ;

HENTATI, F .

MUSCLE & NERVE, 1989, 12 (02) :156-156

[7] SEVERE CHILDHOOD MUSCULAR-DYSTROPHY AFFECTING BOTH SEXES AND FREQUENT IN TUNISIA [J].

HAMIDA, MB ;

FARDEAU, M ;

ATTIA, N .

MUSCLE & NERVE, 1983, 6 (07) :469-480

[8] DEFICIENCY OF THE 50K DYSTROPHIN-ASSOCIATED GLYCOPROTEIN IN SEVERE CHILDHOOD AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY [J].

MATSUMURA, K ;

TOME, FMS ;

COLLIN, H ;

AZIBI, K ;

CHAOUCH, M ;

KAPLAN, JC ;

FARDEAU, M ;

CAMPBELL, KP .

NATURE, 1992, 359 (6393) :320-322

[9] MUTATIONS IN THE DYSTROPHIN-ASSOCIATED PROTEIN GAMMA-SARCOGLYCAN IN CHROMOSOME-13 MUSCULAR-DYSTROPHY [J].

NOGUCHI, S ;

MCNALLY, EM ;

BENOTHMANE, K ;

HAGIWARA, Y ;

MIZUNO, Y ;

YOSHIDA, M ;

YAMAMOTO, H ;

BONNEMANN, CG ;

GUSSONI, E ;

DENTON, PH ;

KYRIAKIDES, T ;

MIDDLETON, L ;

HENTATI, F ;

BENHAMIDA, M ;

NONAKA, I ;

VANCE, JM ;

KUNKEL, LM ;

OZAWA, E .

SCIENCE, 1995, 270 (5237) :819-822

[10] GENETIC-HETEROGENEITY FOR DUCHENNE-LIKE MUSCULAR-DYSTROPHY (DLMD) BASED ON LINKAGE AND 50 DAG ANALYSIS [J].

PASSOSBUENO, MR ;

OLIVEIRA, JR ;

BAKKER, E ;

ANDERSON, RD ;

MARIE, SK ;

VAINZOF, M ;

ROBERDS, S ;

CAMPBELL, KP ;

ZATZ, M .

HUMAN MOLECULAR GENETICS, 1993, 2 (11) :1945-1947