期刊
NEUROMUSCULAR DISORDERS
卷 19, 期 1, 页码 21-25出版社
PERGAMON-ELSEVIER SCIENCE LTD
DOI: 10.1016/j.nmd.2008.09.015
关键词
Dysferlin; Congenital muscular dystrophy; LGMD2B
资金
- Fondo de Investigacion Sanitaria [11106/0455, P105/2457]
- CIBERER [U-705]
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. (C) 2008 Elsevier B.V. All rights reserved.
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