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Nemaline myopathy with stiffness and hypertonia associated with an ACTA1 mutation.
Jain, R K; Jayawant, S; Squier, W; Muntoni, F; Sewry, C A; Manzur, A; Quinlivan, R; Lillis, S; Jungbluth, H; Sparrow, J C; Ravenscroft, G; Nowak, K J; Memo, M; Marston, S B; Laing, N G.
Affiliation
  • Jain RK; Department of Paediatric Neurology, John Radcliffe Hospital, Oxford, UK.
Neurology ; 78(14): 1100-3, 2012 Apr 03.
Article in En | MEDLINE | ID: mdl-22442437
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actins / Myopathies, Nemaline / Muscle Hypertonia / Mutation Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Infant / Male Language: En Journal: Neurology Year: 2012 Document type: Article Affiliation country: Reino Unido
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Actins / Myopathies, Nemaline / Muscle Hypertonia / Mutation Type of study: Diagnostic_studies / Risk_factors_studies Limits: Humans / Infant / Male Language: En Journal: Neurology Year: 2012 Document type: Article Affiliation country: Reino Unido