Mercuri Eugenio, Brockington Martin, Straub Volker, Quijano-Roy Susana, Yuva Yeliz, Herrmann Ralf, Brown Susan C, Torelli Silvia, Dubowitz Victor, Blake Derek J, Romero Norma B, Estournet Brigitte, Sewry Caroline A, Guicheney Pascale, Voit Thomas, Muntoni Francesco
Dubowitz Neuromuscular Centre, Department of Paediatrics, Imperial College London, Hammersmith Hospital Campus, London, United Kingdom.
Ann Neurol. 2003 Apr;53(4):537-42. doi: 10.1002/ana.10559.
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 1 missense and 1 nonsense mutations. Patients with LGMD2I shared a common mutation (C826A,Leu276Ileu) and their phenotypic severity was correlated with the second allelic mutation.
我们描述了22例富谷蛋白相关蛋白（FKPR）基因突变的患者。4例患有先天性肌营养不良（MDC1C），出生时即发病，严重肌无力，无法独立站立。另外18例患有肢带型肌营养不良（LGMD2I）。11例表现出类似杜氏肌营养不良的病程，在十几岁时就失去了行走能力，而7例具有较轻的表型。肌肉活检均显示α- dystroglycan表达异常。MDC1C患者要么携带2个错义突变，要么携带1个错义突变和1个无义突变。LGMD2I患者有一个共同的突变（C826A，Leu276Ileu），其表型严重程度与第二个等位基因突变相关。
