To the Editor I read with great interest the study by Blumstein et al. [1], published online ahead of print on 21 July 2015 in the Journal, about capture myopathy (CM) and its clinical implications for human Takotsubo syndrome (TTS), which reminded me of the seminal work done by Ueyama et al. [2] with their rat immobilization animal model of TTS. The capacity of the brain to injure the heart is...

how to cite this article: nilipour y. lysosomal myopathies. iran j child neurol autumn 2012; 6:4 (suppl. 1):11. pls see pdf.

inflammatory myopathy is a paraneoplastic syndrome. inflammatory myopathy may be the first manifestation of underlying malignancy. it was reported in patients with colon cancer, breast cancer, ovarian cancer, lung cancer and non-hodgkin lymphoma. there are few reports regarding inflammatory myopathy in patients with gastric cancer. we want to present inflammatory myopathy as early manifestation...

TDP-43 mislocalization and aggregation are implicated in the pathogenesis of ALS and FTLD-U. Valosin containing protein (VCP) mutations also lead to TDP-43 deposition, resulting in Inclusion Body Myopathy, Paget disease, and Frontotemporal Dementia (IBMPFD). In this issue of Neuron, Johnson et al. used whole-exome capture to identify VCP mutations in familial ALS. This extends the VCP phenotype...

Background: Statins frequently cause myopathy especially in combination with fibrates, and physical activity is considered a trigger for the muscle disorder. Elevated plasma levels of creatine kinase (CK), lactate dehydrogenase (LDH) and aldolase, are the main indicators of the severity of myopathy. Carvedilol is commonly used with lipid-lowering drugs in the management of heart failure, hypert...

Inherited muscular disorders (IMDs) are clinically and genetically heterogeneous genetic disorders. We investigated the mutational spectrum and genotype-phenotype correlations in Korean patients with IMD. We developed a targeted panel of 69 known IMD genes and recruited a total of 209 Korean patients with IMD. Targeted capture sequencing identified 994 different variants. Among them, 98 variant...

mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (mlasa) syndrome is a rare autosomal recessive disorder of oxidative phosphorylation and iron metabolism. the association between myopathy and sideroblastic anemia was initially reported in 1974. here we report an 8.5 year old boy with normal cognitive function, suffering from chronic progressive weakness in his lower extremities...