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Article

X-linked myotubular myopathy and chylothorax.

Neuromuscular disorders : NMD - 1 Feb 2008

Smets Koenraad

Abstract excerpt

X-linked myotubular myopathy usually presents at birth with hypotonia and respiratory distress. Phenotypic presentation, however, can be extreme variable. We report on a newborn baby, who presented with the severe form of the disease. In the second week of life, he developed a clinically relevant chylothorax, needing drainage and treatment with octreotide acetate. Pleural effusions are frequently described in...

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Share to Biopsy
Share to Chromosomes, Human, X
Share to Infant, Newborn

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Muscle Hypotonia

Share to Myopathies, Structural, Congenital

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Source

Identifiers

PMID: 18077167
DOI: 10.1016/j.nmd.2007.10.004

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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