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- W2018989682 abstract "The X-linked Myotubular myopathy (XLMTM) due to mutations in the MTM1-gene (myotubularin 1) has been clinically well characterised and usually gives rise to a severe phenotype in males presenting at birth with severe congenital myopathy. Although the muscle morphological characteristics are currently well documented (significant number of small muscle fibres with centralised nuclei), the formation and maintenance of this particular structure is not well characterised in human. We aimed to correlate the pathologic features of skeletal muscle biopsy of newborns with MTM1-mutations according to the corrected gestational age, and to compare these morphological findings with the pathological characteristics of muscle in myotubularin1-deficient mice. Clinical and muscle biopsies data from 20 XLMTM-newborns were studied. At birth, the age of newborns ranged from 29 to 42 gestational weeks and the age at the time of the muscle biopsy ranged from 0 to 95 days old. Nineteen patients died before the age of 5 months. Indeed, the sequential analysis of morphological features was performed according with the corrected gestational age. Thus, the proportion of myofibers with central nuclei, the myofiber diameters, the ultrastructural abnormalities, the immunocytochemical expression of muscle development markers will be correlated with the corrected age of XLMTM-newborns, as well as with the MTM1 mutation type (missense, nonsense, splice site, deletion, small insertion or duplication) to try an assessment of the involvement of these different features in the pathological expression of the disease." @default.
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- W2018989682 date "2011-10-01" @default.
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- W2018989682 title "P3.34 Correlation of morphological features of skeletal muscle biopsy with the gestational age of newborns with X-linked Myotubular myopathy, and comparison with the muscle pathology of myotubularin1-deficient mice" @default.
- W2018989682 doi "https://doi.org/10.1016/j.nmd.2011.06.928" @default.
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