Relative frequency of congenital muscular dystrophy subtypes: Analysis of the UK diagnostic service 2001-2008

被引：46

作者：

Clement, E. M. ^{[1
,2
]}

Feng, L. ^{[1
,2
]}

Mein, R. ^{[3
]}

Sewry, C. A. ^{[1
,2
]}

Robb, S. A. ^{[1
,2
]}

Manzur, A. Y. ^{[1
,2
]}

Mercuri, E. ^{[1
,2
,4
]}

Godfrey, C. ^{[1
,2
]}

Cullup, T. ^{[3
]}

Abbs, S. ^{[3
]}

Muntoni, F. ^{[1
,2
]}

机构：

[1] Inst Child Hlth, Dubowitz Neuromuscular Ctr, London WC1N 1EH, England

[2] Great Ormond St Hosp Sick Children, London WC1N 1EH, England

[3] Guys Hosp, Genet Ctr, GSTS Pathol, DNA Lab, London SE1 9RT, England

[4] Catholic Univ, Dept Child Neurol, Rome, Italy

来源：

NEUROMUSCULAR DISORDERS | 2012年 / 22卷 / 06期

关键词：

Congenital muscular dystrophy; Epidemiology; Differential diagnosis; PHENOTYPE; MUSCLE; GENE; PREVALENCE; MUTATIONS; ETIOLOGY; GENOTYPE;

D O I：

10.1016/j.nmd.2012.01.010

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

100204 [神经病学];

摘要：

The Dubowitz Neuromuscular Centre is the UK National Commissioning Group referral centre for congenital muscular dystrophy (CMD). This retrospective review reports the diagnostic outcome of 214 UK patients referred to the centre for assessment of 'possible CMD' between 2001 and 2008 with a view to commenting on the variety of disorders seen and the relative frequency of CMD subtypes in this patient population. A genetic diagnosis was reached in 53 of 116 patients fulfilling a strict criteria for the diagnosis of CMD. Within this group the most common diagnoses were collagen VI related disorders (19%), dystroglycanopathy (12%) and merosin deficient congenital muscular dystrophy (10%). Among the patients referred as 'possible CMD' that did not meet our inclusion criteria, congenital myopathies and congenital myasthenic syndromes were the most common diagnoses. In this large study on CMD the diagnostic outcomes compared favourably with other CMD population studies, indicating the importance of an integrated clinical and pathological assessment of this group of patients. (C) 2012 Elsevier B.V. All rights reserved.

引用

页码：522 / 527

页数：6

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