X-linked myotubular myopathy can present without the characteristic centrally located nuclei on muscle biopsy, highlighting the importance of genetic testing and family history.
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Hypothesis-generating for atypical XLMTM; genetic testing and family history should guide diagnosis when biopsy is nondiagnostic.
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. Myotubular myopathy was not contemplated, therefore, until a maternally related relative was shown to have the disorder. Genetic testing showed that the index case carried the same mutation in his MTM1 gene as this relative.
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Goede et al. (2005) studied this question.
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