• Four infants presented with severe hypotonia, weakness, and hypoventilation or apnea at birth. Their clinical presentations and courses resembled those of the x-linked recessive form of centronuclear myopathy. Histologic examination of their muscle biopsy specimens showed patterns ranging between centronuclear myopathy and type-1 hypotrophy without central nuclei. Regardless of their gender or the appearance of their biopsy specimens, the children all had a poor outcome. The clinical and biopsy findings in these infants suggest that centronuclear myopathy and type-1 hypotrophy without central nuclei do not represent distinct nosologic entities. It seems more likely that the histologic changes represent abnormalities in fiber size distribution and development, which are nonspecific and which reflect a primary defect at one or more sites in the neuraxis.
Lo WD, Barohn RJ, Bobulski RJ, Kean J, Mendell JR. Centronuclear Myopathy and Type-1 Hypotrophy Without Central Nuclei: Distinct Nosologic Entities? Arch Neurol. 1990;47(3):273–276. doi:10.1001/archneur.1990.00530030039013
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