Article
A Study of a Cohort of X-Linked Myotubular Myopathy at the Clinical, Histologic, and Genetic Levels.
Pediatric neurology - 1 May 2016
Abath Neto Osorio, Silva Marina Rodrigues E, Martins Cristiane de Araújo, Oliveira Acary de Souza Bulle, Reed Umbertina Conti, Biancalana Valérie, Pesquero João Bosco, Laporte Jocelyn, Zanoteli Edmar
Abstract excerpt
BACKGROUND: Myotubular myopathy is a rare X-linked congenital myopathy characterized by marked neonatal hypotonia and respiratory insufficiency, facial and ocular involvement, and muscle biopsy with prominent central nuclei in the majority of muscle fibers. It is caused by mutations in MTM1, which codes for the phosphoinositides phosphatase myotubularin. In this work, we established and detailed a new cohort of...
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