X-linked myotubular myopathy: A prospective international natural history study. [PDF]
Neurology, 2019 Because X-linked myotubular myopathy (XLMTM) is a rare neuromuscular disease caused by mutations in the MTM1 gene with a large phenotypic heterogeneity, to ensure clinical trial readiness, it was mandatory to better quantify disease burden and determine best outcome measures.We designed an international prospective and longitudinal natural history ...
Annoussamy M +23 more
europepmc +7 more sources
Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish. [PDF]
PLoS Genetics, 2013 X-linked myotubular myopathy (XLMTM) is a congenital disorder caused by mutations of the myotubularin gene, MTM1. Myotubularin belongs to a large family of conserved lipid phosphatases that include both catalytically active and inactive myotubularin ...
Vandana A Gupta +11 more
doaj +1 more source
X-LINKED RECESSIVE MYOTUBULAR MYOPATHY [PDF]
Pediatric Research, 1984 We studied a family with four neonatal deaths due to X-linked myotubular myopathy. The cardinal features of the two index patients included low Apgar scores, weak respiratory efforts requiring intubation and positive pressure ventilation, flaccidity, lethargy, hypotonia, reduced muscle mass, no spontaneous movements, poor grasp, suck, and Moro reflexes,
Siegfried M Pueschel +5 more
openaire +1 more source
The predictive value of models of neuromuscular disorders to potentiate clinical translation
Disease Models & Mechanisms, 2022 Neuromuscular disorders (NMDs) are a heterogenous group of rare inherited diseases that compromise the function of peripheral nerves and/or muscles. With limited treatment options available, there is a growing need to design effective preclinical studies
Maaike van Putten
doaj +1 more source
X-linked myotubular myopathy and recurrent spontaneous pneumothorax: A new phenotype? [PDF]
Neurol Genet, 2019 X-linked myotubular myopathy (XLMTM) is a rare hereditary disorder of the skeletal muscle. Symptoms include impaired respiration and muscular hypotonia, usually present at birth and leading to death during infancy or early childhood.1 Pneumothorax ...
Carstens PO +7 more
europepmc +2 more sources
X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]
J Neuromuscul DisX-linked myotubular myopathy (XLMTM) is a rare and severe neuromuscular disorder commonly characterized by profound skeletal muscle weakness, significant co-morbid disabilities, and early death. XLMTM has traditionally been viewed as primarily a disorder of skeletal muscle.
Pannia E +3 more
europepmc +3 more sources
A natural history study of X-linked myotubular myopathy. [PDF]
Neurology, 2017 To define the natural history of X-linked myotubular myopathy (MTM).We performed a cross-sectional study that included an online survey (n = 35) and a prospective, 1-year longitudinal investigation using a phone survey (n = 33).We ascertained data from 50 male patients with MTM and performed longitudinal assessments on 33 affected individuals ...
Amburgey K +9 more
europepmc +6 more sources
Manifesting carriers of X-linked myotubular myopathy: Genetic modifiers modulating the phenotype. [PDF]
Neurol Genet, 2020 Objective To analyze the modulation of the phenotype in manifesting carriers of recessive X-linked myotubular myopathy (XLMTM), searching for possible genetic modifiers.
Souza LS +13 more
europepmc +2 more sources
Egyptian Journal of Medical Human Genetics, 2021 Background The X-linked myotubular myopathy (XLMTM) is a rare congenital disease. Its main symptoms are hypotonia, dysmorphic facial features, respiratory failure, and feeding disorder. Case presentation This study reports on a male patient from Neonatal
Aleksandra Dudzik +8 more
doaj +1 more source
A Multicenter, Retrospective Medical Record Review of X-Linked Myotubular Myopathy: The Recensus Study [PDF]
Muscle and Nerve, 2018 Alan H. Beggs +2 more
exaly +2 more sources