X-linked myotubular myopathy in a family of two infant siblings: A case report and review

X-linked myotubular myopathy in a family of two infant siblings: A case report and review

X-linked myotubular myopathy (XLMTM) is a severe type of congenital skeletal muscle disorder usually presenting at birth requiring extensive resuscitation. While having phenotypic variability, its diagnosis carries a poor prognosis due to high rates of hospitalization and mortality by early infancy....

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Bibliographic Details
Main Authors: Amelia Suan-Lin Koe, Yee Yin Tan, Shrenik Vora
Format: Article
Language:English
Published: Elsevier 2024-11-01
Series:Pediatrics and Neonatology
Subjects:
Hypotonia
Neurodevelopmental disorder
X-linked myotubular myopathy
Online Access:http://www.sciencedirect.com/science/article/pii/S187595722400113X

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http://www.sciencedirect.com/science/article/pii/S187595722400113X

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