Results 81 to 90 of about 658 (148)

Clinical Phenotype of X-Linked Myotubular Myopathy in Labrador Retriever Puppies

, 2020
Background: Seven male Labrador Retriever puppies from 3 different litters, born to clinically normal dams and sires, were evaluated for progressive weakness and muscle atrophy.
M Van Der Kooij, S M Taylor, E C R Snead, A H Beggs, G D Shelton, K Cosford   +5 more
core  

A multicenter, retrospective medical record review of X‐linked myotubular myopathy: The recensus study

, 2018
Introduction:: X‐linked myotubular myopathy (XLMTM), characterized by severe hypotonia, weakness, respiratory distress, and early mortality, is rare and natural history studies are few.
Hughes, Imelda, Yang, Michele L., Prasad, Suyash, James, Emma S., Beggs, Alan, Simon, Jennifer, De Chastonay, Sabine, Haselkorn, Tmirah, Swanson, Lindsay C., Yum, Sabrina W., Yu, Zi‐Fan, Byrne, Barry J., Kuntz, Nancy L.   +12 more
core   +1 more source

Additional file 1 of A healthcare claims analysis to identify and characterize patients with suspected X-Linked Myotubular Myopathy (XLMTM) in the Brazilian Healthcare System

Supplementary Material ...
Souza, Paulo Victor Sgobbi, Haselkorn, Tmirah, Baima, Jader, Oliveira, Renato Watanabe, Hernández, Fabián, Birck, Marina G., França, Marcondes C.   +6 more
openaire   +1 more source

Mortality and respiratory support in X-linked myotubular myopathy: a RECENSUS retrospective analysis [PDF]

, 2019
PURPOSE: Individuals with X-linked myotubular myopathy (XLMTM) who survive infancy require extensive supportive care, including ventilator assistance, wheelchairs and feeding tubes. Half die before 18 months of age.
Genetti, CA, Beggs, AH, James, ES, Graham, RJ, Haselkorn, T, LaRusso, LB, Muntoni, F, Yang, ML, Rico, S, Yum, SW, Prasad, S, Noursalehi, M, Alvarez, R, Byrne, BJ, Kuntz, NL, Hughes, I   +15 more
core  

Investigating the Role of Dysregulated Protein Translation in the Pathogenesis of X-Linked Myotubular Myopathy [PDF]

X-linked myotubular myopathy (XLMTM) is a rare congenital muscular disease caused by mutations in the MTM1 gene and is characterized by severe muscle hypotrophy (decreased myofiber size) and weakness. To date, the molecular origins of hypotrophic muscles
Wahhab, Aamir
core  

microRNA-133a as an Indicator of Disease Progression and Treatment Response in a Mouse Model of X-linked Myotubular Myopathy

X-linked Myotubular myopathy (XLMTM) is a rare pediatric neuromuscular disease caused by loss-of-function variants in myotubularin (MTM1). XLMTM is associated with severe disabilities and early death and is at present, without effective therapy.
Maani, Nika
core  

X-linked myotubular myopathy, liver disease, and gene therapy. [PDF]

J Neuromuscul Dis
Pannia E, Karolczak S, Stine R, Dowling JJ.   +3 more
europepmc   +1 more source

High-throughput transcriptome analyses from ASPIRO, a phase 1/2/3 study of gene replacement therapy for X-linked myotubular myopathy. [PDF]

Am J Hum Genet, 2023
Andreoletti G, Romano O, Chou HJ, Sefid-Dashti MJ, Grilli A, Chen C, Lakshman N, Purushothaman P, Varfaj F, Mavilio F, Bicciato S, Urbinati F.   +11 more
europepmc   +1 more source

A Novel De Novo MTM1 Insertion Frameshift Variant Causes X-Linked Myotubular Myopathy in a Chinese Female. [PDF]

Mol Genet Genomic Med
Chen L, Bao Y, Liu G.
europepmc   +1 more source

Arrhythmias in patients with X-linked myotubular myopathy. [PDF]

Rev Neurol, 2023
Pons-Espinal M, Clotet-Caba J, Cesar-Díaz S, Yubero-Siles D.   +3 more
europepmc   +1 more source