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Muscle biopsy without centrally located nuclei in a male child with mild X‐linked myotubular myopathy
Author(s) -
Goede Christian G E L de,
Kelsey Anna,
Kingston Helen,
Tomlin Pamela I,
Hughes M Imelda
Publication year - 2005
Publication title -
developmental medicine and child neurology
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.658
H-Index - 143
eISSN - 1469-8749
pISSN - 0012-1622
DOI - 10.1111/j.1469-8749.2005.tb01090.x
Subject(s) - muscle biopsy , myopathy , biopsy , congenital myopathy , pathology , medicine
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.