Cap Myopathy

05/01/2016 - "The use of macrolides as part of combination antibiotic therapy has shown beneficial mortality effects across the CAP disease spectrum, especially for those with severe illness. "
05/01/2014 - "Pneumonia severity, mortality assessment timing, comorbidities, corticosteroid and antibiotic choice and timing in the CAP disease course, and bias risks varied across the four trials. "

05/01/2014 - "Pneumonia severity, mortality assessment timing, comorbidities, corticosteroid and antibiotic choice and timing in the CAP disease course, and bias risks varied across the four trials. "

02/01/2014 - "Here, we report on the first autosomal dominant family with cap myopathy in three-generations, caused by a novel heterozygous mutation in the alpha-tropomyosin-slow-encoding gene (TPM3; exon 4; c.445C>A; p.Leu149Ile). "
05/01/2009 - "Cap disease due to mutation of the beta-tropomyosin gene (TPM2)."
12/02/2008 - "New morphologic and genetic findings in cap disease associated with beta-tropomyosin (TPM2) mutations."
06/01/2007 - "Cap disease caused by heterozygous deletion of the beta-tropomyosin gene TPM2."
12/01/2017 - "Deletion of Glu139 in β-tropomyosin caused by a point mutation in TPM2 gene is associated with cap myopathy characterized by high myofilament Ca2+-sensitivity and muscle weakness. "

11/05/2013 - "The MIC-CAP disease mutation, Thr313Ile, yields a substantial loss of catalytic activity without any significant change in the thermodynamic stability of the protein, indicating that its perturbed catalytic activity is the basis of the disease. "
07/01/2010 - "The histological changes associated with this mutation vary widely from typical cap myopathy with near complete type 1 predominance (two patients), to typical congenital fibre-type disproportion without protein inclusions (one patient). "
09/01/2009 - "Genes were then validated at the protein level by tissue microarrays, representing various stages of CaP disease. "
12/01/2011 - "Caps in cap disease and reducing bodies in reducing body myopathy were disclosed to contain numerous proteins. "
12/01/2018 - "The E41K mutation in TPM2 gene encoding muscle regulatory protein beta-tropomyosin is associated with nemaline myopathy and cap disease. "

12/10/2018 - "Point mutations in genes encoding isoforms of skeletal muscle tropomyosin may cause nemaline myopathy, cap myopathy (Cap), congenital fiber-type disproportion (CFTD), and distal arthrogryposis. "
07/01/2014 - "Mutations affecting skeletal muscle isoforms of the tropomyosin genes may cause nemaline myopathy, cap myopathy, core-rod myopathy, congenital fiber-type disproportion, distal arthrogryposes, and Escobar syndrome. "

04/01/2010 - "Cap myopathy caused by a mutation of the skeletal alpha-actin gene ACTA1."
10/01/2007 - "In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. "

09/01/2008 - "Our results suggest that EMMPRIN may regulate MMPs and be involved in CaP progression, and as such, could provide a target for treating metastatic CaP disease."

10/01/2007 - "In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. "

10/01/2007 - "In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. "

10/01/2007 - "In the past year novel congenital myopathies have been suggested, genes have been discovered for some of the congenital myopathies for the first time (beta-tropomyosin in cap disease and perhaps skeletal muscle alpha-actin in Zebra body myopathy), further genes have been identified for congenital myopathies where other genes had already been found (cofilin in nemaline myopathy, selenoprotein N in congenital fibre type disproportion) and recessive myosin storage myopathy was associated with homozygous mutation of slow-skeletal/beta-cardiac myosin which was already known to be mutated in dominant myosin storage myopathy. "

12/01/2014 - "We describe a case of cap myopathy with myasthenic features due to a mutation in the TPM2 gene that responded to anticholinesterase therapy. "
05/01/2016 - "The use of macrolides as part of combination antibiotic therapy has shown beneficial mortality effects across the CAP disease spectrum, especially for those with severe illness. "

02/01/2007 - "Plasma levels of uPA and uPAR are associated with features of biologically aggressive CaP, disease progression after radical prostatectomy, and metastasis."