TTN wt Allele

Known as: EOMFC, Titin wt Allele, FLJ26020 
Human TTN wild-type allele is located in the vicinity of 2q31 and is approximately 305 kb in length. This allele, which encodes titin protein, is… (More)
National Institutes of Health

Topic mentions per year

Topic mentions per year

2013-2015
01220132015

Papers overview

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2016
2016
OBJECTIVE To assess whether hereditary myopathy with early respiratory failure (HMERF) due to the c.951434T>C; (p.Cys31712Arg… (More)
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2015
2015
In their JNNP paper Uruha et al explore the diagnostic utility of necklace cytoplasmic bodies in patients with hereditary… (More)
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2015
2015
BACKGROUND In hereditary myopathy with early respiratory failure (HMERF), cytoplasmic bodies (CBs) are often localised in… (More)
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2014
2014
Sir, Hereditary myopathy with early respiratory failure (HMERF) is a neuromuscular disease associated with aggregation of various… (More)
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2014
2014
OBJECTIVE Several families with characteristic features of hereditary myopathy with early respiratory failure (HMERF) have… (More)
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2014
2014
Sir, The letter from Hedberg et al. (2013) is of great interest because it addresses an important question relating to the… (More)
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2014
2014
The nuclear hormone receptor retinoic acid-related orphan receptor gamma t (RORγt) is a transcription factor (TF) specific to… (More)
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2013
2013
Myofibrillar myopathy (MFM) is a group of chronic muscular disorders that show the focal dissolution of myofibrils and… (More)
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2013
2013
BACKGROUND Hereditary myopathy with early respiratory failure (HMERF) was described in several North European families and… (More)
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