Abstract |
X-linked myotubular myopathy ( XLMTM), a centronuclear congenital myopathy secondary to pathogenic variants in the MTM1 gene encoding myotubularin, is typically recognized for its classic and severe phenotype which includes neonatal hypotonia, severe muscle weakness, long-term ventilator dependence, markedly delayed gross motor milestones with inability to independently ambulate, and a high neonatal and childhood mortality. However, milder congenital forms of the condition and other phenotypes are recognized. We describe a 6-year-old boy with a mild XLMTM phenotype with independent gait and no respiratory insufficiency even in the neonatal period. The child has a hemizygous novel splice site variant in the MTM1 gene (c.232-25A > T) whose pathogenicity was confirmed by cDNA studies (exon 5 skipping) and muscle biopsy findings. We also compared the phenotype of our patient with the few reported cases that presented a mild XLMTM phenotype and no respiratory distress at birth, and discussed the potential mechanisms underlying this phenotype such as the presence of residual expression of the normal myotubularin transcript.
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Authors | Andreia Carvalho, Carmen Costa, Miguel Pinto, Ricardo Taipa, Ana Gonçalves, Márcia E Oliveira, Sofia Ferreira, Joana Afonso Ribeiro |
Journal | Journal of pediatric genetics
(J Pediatr Genet)
Vol. 12
Issue 3
Pg. 258-262
(Sep 2023)
ISSN: 2146-4596 [Print] Germany |
PMID | 37575650
(Publication Type: Journal Article)
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Copyright | Thieme. All rights reserved. |