A new phenotype of dysferlinopathy with congenital onset
Por:
Paradas, C, Gonzalez-Quereda, L, De Luna, N, Gallardo, E, Garcia-Consuegra, I, Gomez, H, Cabello, A, Illa, I, Gallano, P
Publicada:
1 ene 2009
Resumen:
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.
Filiaciones:
Paradas, C:
Hosp Valme, Dept Neurol, Seville, Spain
Gonzalez-Quereda, L:
Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERER, Ctr Invest Red Enfermedades Raras, Barcelona, Spain
De Luna, N:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain
Gallardo, E:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain
Garcia-Consuegra, I:
Hosp Univ 12 Octubre, Neuropathol Sect, Dept Pathol, Madrid, Spain
Gomez, H:
Complejo Hosp Zafra Llerena, Dept Pediat, Badajoz, Spain
Cabello, A:
Hosp Univ 12 Octubre, Neuropathol Sect, Dept Pathol, Madrid, Spain
Illa, I:
Univ Autonoma Barcelona, Dept Neurol, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERNED, Ctr Invest Biomed Red Enfermedades Neurodegenerat, Barcelona, Spain
Gallano, P:
Univ Autonoma Barcelona, Dept Genet, Hosp Santa Creu & St Pau, Barcelona 08025, Spain
CIBERER, Ctr Invest Red Enfermedades Raras, Barcelona, Spain
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