X-linked myotubular myopathy: a clinical report and a review of the mild phenotype.

ABSTRACT:

Introduction

X-linked myotubular myopathy is a rare centronuclear myopathy that affects approximately 1 in 50,000 male newborns caused by pathogenic variants in the myotubularin 1 gene (MTM1). The clinical severity varies, however the need for ventilatory support occurs almost invariably.

Case report

We report the case of a 4-year-old boy presenting mild muscle hypotonia at 12 months-old, expressive language disorder, global developmental delay, and a sensory processing disorder. Clinical exome sequencing identified the hemizygous variant c.722G>A p.(Arg241His) in exon 9 of the myotubularin 1 gene (NM_000252.2). The mother is a heterozygous carrier of the same variant. A diagnosis of a mild form of maternal inherited X-linked myotubular myopathy was established. The child pr

SUBMITTER: Barreto-Mota R 

PROVIDER: S-EPMC10478115 | biostudies-literature | 2023 Apr

REPOSITORIES: biostudies-literature