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MYOTILINOPATHY

Known as: MYOPATHY, MYOFIBRILLAR, MYOTILIN-RELATED 
National Institutes of Health

Related topics

Related topics

2 relations

Broader (1)

Congenital Structural Myopathy
MYOPATHY, MYOFIBRILLAR, 3

Papers overview

Semantic Scholar uses AI to extract papers important to this topic.
2020
2020
Multisystem Myotilinopathy, including Myopathy and Left Ventricular Noncompaction, due to the MYOT Variant c.179C>T
Left ventricular hypertrabeculation/noncompaction is a myocardial abnormality of unknown etiology/pathogenesis, which is… 
2018
2018
Myotilinopathy unmasked by statin treatment: A case report
sit without support at age 6 months and to walk alone at age 12 months, but he preferred not to run and occasionally complained… 
2013
2013
Limb Girdle Muscular Dystrophies
Autosomal dominant and recessive limb-girdle muscular dystrophies (LGMD) are a heterogeneous group of genetic diseases with a… 
2009
2009
The Myopathic Protein Myotilin in Developing Mouse and in Muscle Function
Skeletal muscle cells are highly specialised in order to accomplish their function. During development, the fusion of hundreds of… 
Review
2008
Review
2008
Novel insights on functions of myotilin/palladin family members
8 REVIEW OF THE LITERATURE 10 1. Cytoskeleton 10 1.1 Structural and functional differences between striated muscle, smooth muscle… 
2007
2007
Myotilinopathy – A report on four UK patients
2005
2005
Hsp27‐2D‐gel electrophoresis is a diagnostic tool to differentiate primary desminopathies from myofibrillar myopathies
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