X-linked myotubular myopathy. Neuromuscul Disord 2021 Oct;31(10):1004-1012
Date
11/06/2021Pubmed ID
34736623DOI
10.1016/j.nmd.2021.08.003Scopus ID
2-s2.0-85118478299 (requires institutional sign-in at Scopus site) 30 CitationsAbstract
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 in most affected individuals. The disease is classically defined by characteristic changes observed on muscle biopsy, including centrally located nuclei, myofiber hypotrophy, and organelle disorganization. In this review, we highlight the clinical and pathologic features of the disease, present concepts related to disease pathomechanisms, and present recent advances in therapy development.
Author List
Lawlor MW, Dowling JJAuthor
Michael W. Lawlor MD, PhD Adjunct Professor in the Pathology department at Medical College of WisconsinMESH terms used to index this publication - Major topics in bold
FemaleHumans
Male
Muscle Weakness
Muscle, Skeletal
Mutation
Myopathies, Structural, Congenital
Phenotype
Protein Tyrosine Phosphatases, Non-Receptor
