Limb-girdle muscular dystrophy: Diagnostic evaluation, frequency and clues to pathogenesis

被引：71

作者：

Lo, Harriet P. ^{[2
]}

Cooper, Sandra T. ^{[1
,2
]}

Evesson, Frances J. ^{[2
]}

Seto, Jane T. ^{[1
,2
]}

Chiotis, Maria ^{[3
]}

Tay, Valerie ^{[3
]}

Compton, Alison G. ^{[2
]}

Cairns, Anita G. ^{[2
]}

Corbett, Alistair ^{[4
]}

MacArthur, Daniel G. ^{[1
,2
]}

Yang, Nan ^{[2
]}

Reardon, Katrina ^{[3
]}

North, Kathryn N. ^{[1
,2
]}

机构：

[1] Univ Sydney, Childrens Hosp Westmead, Discipline Paediat & Child Hlth, Fac Med, Westmead, NSW 2145, Australia

[2] Childrens Hosp Westmead, Inst Neuromuscular Res, Sydney, NSW, Australia

[3] St Vincents Hosp, Ctr Clin Neurosci & Neurol Res, Melbourne, Vic, Australia

[4] Concord Repatriat Gen Hosp, Sydney, NSW, Australia

来源：

NEUROMUSCULAR DISORDERS | 2008年 / 18卷 / 01期

基金：

英国医学研究理事会;

关键词：

limb-girdle muscular dystrophy; dysferlin;

D O I：

10.1016/j.nmd.2007.08.009

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We characterized the frequency of limb-girdle muscular dystrophy (LGMD) subtypes in a cohort of 76 Australian muscular dystrophy patients using protein and DNA sequence analysis. Calpainopathies (8%) and dysferlinopathies (5%) are the most common causes of LGMD in Australia. In contrast to European populations, cases of LGMD21 (due to mutations in FKRP) are rare in Australasia (3%). We have identified a cohort of patients in whom all common disease candidates have been excluded, providing a valuable resource for identification of new disease genes. Cytoplasmic localization of dysferlin correlates with fiber regeneration in a subset of muscular dystrophy patients. In addition, we have identified a group of patients with unidentified forms of LGMD and with markedly abnormal dysferlin localization that does not correlate with fiber regeneration. This pattern is mimicked in primary caveolinopathy, suggesting a subset of these patients may also possess mutations within proteins required for membrane targeting of dysferlin. (C) 2007 Elsevier B.V. All rights reserved.

引用

页码：34 / 44

页数：11

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