Condition: X-linked centronuclear myopathy


rs1057516031 in MTM1 gene and X-linked centronuclear myopathy PMID 26938784 2016 A prospective evaluation of whole-exome sequencing as a first-tier molecular test in infants with suspected monogenic disorders.

PMID 22617344 2012 Clinical utility gene card for: Centronuclear and myotubular myopathies.

PMID 11552027 2001 Limb girdle and facial weakness in female carriers of X-linked myotubular myopathy mutations.

PMID 9305655 1997 Mutations in the MTM1 gene implicated in X-linked myotubular myopathy. ENMC International Consortium on Myotubular Myopathy. European Neuro-Muscular Center.

PMID 10063835 1999 Characterization of 34 novel and six known MTM1 gene mutations in 47 unrelated X-linked myotubular myopathy patients.

PMID 12031625 2002 Rapid scanning of myotubularin (MTM1) gene by denaturing high-performance liquid chromatography (DHPLC).

PMID 11793470 2002 Characterization of mutations in fifty North American patients with X-linked myotubular myopathy.

PMID 9829274 1998 MTM1 gene mutations in Japanese patients with the severe infantile form of myotubular myopathy.

PMID 20358311 2010 Mutation studies in X-linked myotubular myopathy in three Indian families.

PMID 10466421 1999 Germline mosaicism in X-linked myotubular myopathy.

PMID 19129059 2008 X-linked myotubular myopathy with a novel MTM1 mutation in a Taiwanese child.

PMID 10502779 1999 Identification of novel mutations in the MTM1 gene causing severe and mild forms of X-linked myotubular myopathy.

PMID 23818870 2013 Loss of catalytically inactive lipid phosphatase myotubularin-related protein 12 impairs myotubularin stability and promotes centronuclear myopathy in zebrafish.

PMID 12859411 2003 X-linked myotubular myopathy in a family with three adult survivors.

PMID 12522554 2003 Characterisation of mutations in 77 patients with X-linked myotubular myopathy, including a family with a very mild phenotype.

PMID 17005396 2006 Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

PMID 9285787 1997 Characterization of mutations in the myotubularin gene in twenty six patients with X-linked myotubular myopathy.

PMID 10790201 2000 MTM1 mutations in X-linked myotubular myopathy.

PMID 22520358 2012 Predisposition to subdural hemorrhage in X-linked myotubular myopathy.

PMID 17973976 2008 Multiple disease-linked myotubularin mutations cause NFL assembly defects in cultured cells and disrupt myotubularin dimerization.

PMID 20500434 2011 Bilateral subdural hygromas and cephalhaematomas in male twins with severe myotubular myopathy caused by a Novel c.431delT (p.Leu144fs) mutation in MTM1 gene.

PMID 20434914 2010 Novel molecular diagnostic approaches for X-linked centronuclear (myotubular) myopathy reveal intronic mutations.

PMID 17005396 2006 Extreme phenotypic variability in a German family with X-linked myotubular myopathy associated with E404K mutation in MTM1.

PMID 12118066 2002 The PtdIns3P phosphatase myotubularin is a cytoplasmic protein that also localizes to Rac1-inducible plasma membrane ruffles.

PMID 25957634 2015 Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.

PMID 19084976 2009 """Necklace"" fibers, a new histological marker of late-onset MTM1-related centronuclear myopathy."

PMID 29567349 2018 Whole exome sequencing discloses a pathogenic MTM1 gene mutation and ends the diagnostic odyssey in an older woman with a progressive and seemingly sporadic myopathy: Case report and literature review of MTM1 manifesting female carriers.