Extremely thinning ribs in severe congenital myopathy.
Yan ChenYong-Jun ZhangPublished in: Pediatric pulmonology (2023)
A full-term boy born with global hypotonia, weakness, and respiratory insufficiency was finally diagnosed as X-linked centronuclear myopathy by whole exome sequencing, with a mutation in the MTM1 gene encoding myotubularin. In addition to the typical phenotypes, the infant had a distinctive feature in his chest x-ray, extremely thinning ribs. This was presumably due to scarcely antepartum work of breathing and may be an important suggestive indicator for skeletal muscle conditions.
Keyphrases
- skeletal muscle
- late onset
- gestational age
- early onset
- muscular dystrophy
- preterm infants
- insulin resistance
- low birth weight
- machine learning
- high resolution
- deep learning
- copy number
- dual energy
- preterm birth
- magnetic resonance imaging
- genome wide identification
- metabolic syndrome
- respiratory tract
- computed tomography
- transcription factor
- drug induced
- type diabetes
- gene expression
- adipose tissue
- duchenne muscular dystrophy