MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY (disorder)

Known as: MYOPATHY, X-LINKED, WITH POSTURAL MUSCLE ATROPHY, Xmpma 
 
National Institutes of Health

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11 relations
Back PainCamptocormiaConduction disorder of the heartCytoplasmic bodies
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Muscular Dystrophy, Emery-Dreifuss

Papers overview

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2014
2014
199th ENMC international workshop: FHL1 related myopathies, June 7–9, 2013, Naarden, The Netherlands
a Inserm, U974, Paris F-75013, France b Sorbonne Universités, UPMC Univ Paris 06, Myology Center of Research, UM76; CNRS FRE 3617… (More)
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2012
2012
Spongious hypertrophic cardiomyopathy in patients with mutations in the four-and-a-half LIM domain 1 gene.
BACKGROUND X-linked myopathy with postural muscle atrophy is a novel X-linked myopathy caused by mutations in the four-and-a-half… (More)
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2011
2011
Christianson syndrome in a patient with an interstitial Xq26.3 deletion.
Interstitial deletions of chromosome band Xq26.3 are rare. We report on a 2-year-old boy in whom array comparative genomic… (More)
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2011
2011
XMPMA: acute on chronic ventilatory failure managed successfully with non-invasive ventilation
Many myopathies involve the respiratory muscles, both inspiratory and expiratory muscle groups. Inspiratory muscle weakness… (More)
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