Congenital myopathy (disorder)

Known as: congenital myopathies, myopathy congenital, congenital myopathy 
 
National Institutes of Health

Topic mentions per year

Topic mentions per year

1954-2017
0204019542016

Papers overview

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Highly Cited
2010
Highly Cited
2010
OBJECTIVE Centronuclear myopathy (CNM) is a rare congenital myopathy characterized by prominence of central nuclei on muscle… (More)
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Highly Cited
2009
Highly Cited
2009
Myotubularin is a lipid phosphatase implicated in endosomal trafficking in vitro, but with an unknown function in vivo. Mutations… (More)
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Highly Cited
2007
Highly Cited
2007
Dominant mutations in the skeletal muscle ryanodine receptor (RYR1) gene are well-recognized causes of both malignant… (More)
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Highly Cited
2007
Highly Cited
2007
Nemaline myopathy (NM) is a congenital myopathy characterized by muscle weakness and nemaline bodies in affected myofibers. Five… (More)
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2006
2006
In eukaryotic cells, phosphoinositides are lipid second messengers important for many cellular processes and have been found… (More)
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2005
2005
A new scale for motor function measurement has been developed for neuromuscular diseases. The validation study included 303… (More)
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Highly Cited
2002
Highly Cited
2002
Multiminicore disease (MmD) is an autosomal recessive congenital myopathy characterized by the presence of multiple, short core… (More)
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Highly Cited
2001
Highly Cited
2001
Cypher is a member of a recently emerging family of proteins containing a PDZ domain at their NH(2) terminus and one or three LIM… (More)
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2000
2000
BACKGROUND Central core disease (CCD) and nemaline rod myopathy are generally considered two genetically and histologically… (More)
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2000
2000
Central core disease (CCD) and nemaline myopathy (NM) are congenital myopathies for which differential diagnosis is often based… (More)
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