Paradas C, González-Quereda L, De Luna N, Gallardo E, García-Consuegra I, Gómez H, Cabello A, Illa I, Gallano P
Department of Neurology, Hospital de Valme, Sevilla, Spain.
Neuromuscul Disord. 2009 Jan;19(1):21-5. doi: 10.1016/j.nmd.2008.09.015. Epub 2008 Dec 11.
We report two patients with a new phenotype of dysferlinopathy presenting as congenital muscular disease. Both patients showed weakness in proximal lower limbs and neck flexor muscles at birth. The presence of normal CK levels during the first years should be noted. Initial MRI showed no abnormalities but short-time-inversion-recovery (STIR) sequences revealed a striking myoedema in gastrocnemius and hamstring muscles at the age of 5. Muscle biopsy showed mild dystrophic features and the absence of dysferlin. Dysferlin gene (DYSF) analysis revealed a p.Ala927LeufsX21 mutation in a homozygous state in both siblings. This new phenotype widens the clinical spectrum of dysferlin myopathies.
我们报告了两名患有新表型的肌膜蛋白病患者，其表现为先天性肌肉疾病。两名患者出生时均表现为下肢近端和颈部屈肌肌无力。应注意在最初几年中肌酸激酶（CK）水平正常。最初的磁共振成像（MRI）未显示异常，但短时间反转恢复（STIR）序列显示在5岁时腓肠肌和腘绳肌出现明显的肌水肿。肌肉活检显示轻度营养不良特征且无肌膜蛋白。肌膜蛋白基因（DYSF）分析显示，两名患者均为纯合状态的p.Ala927LeufsX21突变。这种新表型拓宽了肌膜蛋白肌病的临床谱。
