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Idioma:

G.P.262

Okubo, M ; Ishiyama, A ; Komaki, H ; Takeshita, E ; Saito, T ; Saito, Y ; Nakagawa, E ; Sugai, K ; Hayashi, Y.K ; Nishino, I ; Sasaki, M

Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.895-895 [Periódico revisado por pares]

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  • Título:
    G.P.262
  • Autor: Okubo, M ; Ishiyama, A ; Komaki, H ; Takeshita, E ; Saito, T ; Saito, Y ; Nakagawa, E ; Sugai, K ; Hayashi, Y.K ; Nishino, I ; Sasaki, M
  • Assuntos: Neurology
  • É parte de: Neuromuscular disorders : NMD, 2014-10, Vol.24 (9), p.895-895
  • Descrição: Nemaline myopathy (NM) is a clinically and genetically heterogeneous skeletal muscle disorder. An increasing number of reports have shown the usefulness of skeletal muscle imaging for differentiating neuromuscular disorders. However, the characteristic patterns in most cases do not correspond with the typical selectivity of muscle involvement in NM. In this study, we aimed to clarify the relationship between genotype and imaging phenotype in NM. Twelve patients (median age, 4.8 years) who visited the Department of Pediatric Neurology at NCNP hospital and were diagnosed with NM by muscle biopsy between 2005 and 2013 were studied. The direct sequence of ACTA1 was initially analyzed in all patients. Then, a next generation sequence was performed for the other cases detected no mutations in ACTA1. Magnetic resonance imaging (MRI) of the lower limb skeletal muscles was performed before muscle biopsy in all patients. We classified the patients into 3 groups according to the region of selective involvement on MRI. Group 1, soleus and gastrocnemius muscles ( n = 5; 3 NEB mutations, 1 ACTA1 mutation, 1 TNNT3 mutation,) Group 2, vastus lateralis, vastus medialis, and semimembranosus muscles, with relative sparing of the rectus femoris, sartorius, gracilis, adductor longus, and semitendinousus muscles ( n = 3; 2 NEB mutations, 1 unknown mutation), and Group 3, other patterns ( n = 4; 2 ACTA1 mutations, 2 unknown mutations). All patients in Group 1 could walk unassisted and had no mental retardation. The Group 2 patients could not walk for a long distance. In Group 3, the clinical spectrum ranged from mild to severe. The selectivity pattern in Group 1 was previously reported for a mild form of NM with an NEB mutation. However, the pattern observed in Group 2 has not been reported, suggesting that NM due to NEB mutations shows variable patterns of selectivity.
  • Idioma: Inglês
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  • Realização: ABCD-USP USP   Logos de Redes Sociais: Freepik

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