Article
X-linked myotubular myopathy.
Neuromuscular disorders : NMD - 1 Oct 2021
Lawlor Michael W, Dowling James J
Abstract excerpt
X-linked myotubular myopathy (XLMTM) is a severe congenital muscle disease caused by mutation in the MTM1 gene. MTM1 encodes myotubularin (MTM1), an endosomal phosphatase that acts to dephosphorylate key second messenger lipids PI3P and PI3,5P2. XLMTM is clinically characterized by profound muscle weakness and associated with multiple disabilities (including ventilator and wheelchair dependence) and early death...
Topics
- Female
- Humans
- Male
- Muscle Weakness
- Muscle, Skeletal
- Mutation
- Myopathies, Structural, Congenital
- Phenotype
- Protein Tyrosine Phosphatases, Non-Receptor