Phenotypic spectrum associated with mutations in the fukutin-related protein gene

被引：173

作者：

Mercuri, E

Brockington, M

Straub, V

Quijano-Roy, S

Yuva, Y

Herrmann, R

Brown, SC

Torelli, S

Dubowitz, V

Blake, DJ

Romero, NB

Estournet, B

Sewry, CA

Guicheney, P

Voit, T

Muntoni, F

机构：

[1] Univ London Imperial Coll Sci Technol & Med, Dept Paediat, Dubowitz Neuromuscular Ctr, London, England

[2] Catholic Univ, Dept Paediat Neurol & Child Psychiat, Rome, Italy

[3] Univ Essen Gesamthsch, Dept Paediat & Paediat Neurol, Essen, Germany

[4] Hop Ray Poincare, Serv Pediat Reanimat & Reeduc Neuroresp, Garches, France

[5] Univ Oxford, Dept Pharmacol, Oxford OX1 2JD, England

[6] Hop La Pitie Salpetriere, INSERM, U523, Inst Myol, Paris, France

[7] Robert Jones & Agnes Hunt Orthopaed Hosp, Dept Histopathol, Oswestry SY10 7AG, Shrops, England

来源：

ANNALS OF NEUROLOGY | 2003年 / 53卷 / 04期

关键词：

D O I：

10.1002/ana.10559

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We describe 22 patients with mutations in the fukutin-related protein (FKPR) gene. Four patients had congenital muscular dystrophy (MDC1C), with presentation at birth, severe weakness and inability to stand unsupported. The other 18 had limb girdle muscular dystrophy (LGMD2I). Eleven showed a Duchenne-like course with loss of ambulation in the early teens while 7 had a milder phenotype. Muscle biopsy invariably showed abnormal expression of a-dystroglycan. MDC1C patients either carried 2 missense or I missense and I nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.

引用

页码：537 / 542

页数：6

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