Article
Muscle biopsy without centrally located nuclei in a male child with mild X-linked myotubular myopathy.
Developmental medicine and child neurology - 1 Dec 2005
de Goede Christian G E L, Kelsey Anna, Kingston Helen, Tomlin Pamela I, Hughes M Imelda
Abstract excerpt
In children with a myopathy, muscle biopsy, together with the clinical presentation, can guide further investigations. The presence of centrally located nuclei suggests a myotubular myopathy, and gene testing may confirm this diagnosis. We describe a male child with a mild form of X-linked myotubular myopathy for which repeated muscle biopsy did not show the characteristic pattern of centrally located nuclei....
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