A novel mtDNA point mutation in tRNAVal is associated with hypertrophic cardiomyopathy and MELAS [PDF]
, 2004 Background. Pathological mutations of mitochondrial (mt) DNA may cause specific diseases such as cardiomyopathies or hearing loss, or syndromes such as mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episode (MELAS) syndrome.
Arbustini, Eloisa +5 more
core
Mitochondrial dynamics–fusion, fission, movement, and mitophagy–in neurodegenerative diseases [PDF]
, 2009 Neurons are metabolically active cells with high energy demands at locations distant from the cell body. As a result, these cells are particularly dependent on mitochondrial function, as reflected by the observation that diseases of mitochondrial ...
Alexander +42 more
core +3 more sources
Familial X-linked cardiomyopathy (Danon disease): diagnostic confirmation by mutation analysis of the LAMP2 gene [PDF]
, 2018 A boy presented at age 2.5 years with mild left ventricular hypertrophy and mild myopathy. Hypertrophic cardiomyopathy progressed relentlessly, leading to death at age 16 years shortly before planned heart transplantation.
Ballhausen, Diana +6 more
core
Increased autophagy accelerates colchicine-induced muscle toxicity [PDF]
, 2013 Colchicine treatment is associated with an autophagic vacuolar myopathy in human patients. The presumed mechanism of colchicine-induced myotoxicity is the destabilization of the microtubule system that leads to impaired autophagosome-lysosome fusion and ...
Ching, James K +4 more
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UEG Week 2019 Poster Presentations
, 2019 United European Gastroenterology Journal, Volume 7, Issue S8, Page 189-1030, October 2019.
wiley +1 more source
Phenotypes of Myopathy-related Actin Mutants in differentiated C2C12 Myotubes [PDF]
, 2007 Background About 20 % of nemaline myopathies are thus far related to skeletal muscle alpha-actin. Seven actin mutants located in different parts of the actin molecule and linked to different forms of the disease were selected and expressed as EGFP-tagged
Machesky Laura M +2 more
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Over-expression of Tfam improves the mitochondrial disease phenotypes in a mouse model system [PDF]
, 2010 The phenotypes of mitochondrial diseases caused by mutations in mitochondrial DNA (mtDNA) have been proposed to be strictly regulated by the proportion of wild-type and pathogenically mutated mtDNAs. More specifically, it is thought that the onset of the
Hayashi Jun-Ichi +12 more
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Recessive RYR1 mutations cause unusual congenital myopathy with prominent nuclear internalization and large areas of myofibrillar disorganization. [PDF]
, 2011 International audienceAIMS: To report the clinical, pathological and genetic findings in a group of patients with a previously not described phenotype of congenital myopathy due to recessive mutations in the gene encoding the type 1 muscle ryanodine ...
Bevilacqua, J. A. +14 more
core +4 more sources
UEG Week 2018 Poster Presentations
, 2018 United European Gastroenterology Journal, Volume 6, Issue S8, Page A135-A747, October 2018.
wiley +1 more source
Cellular and molecular mechanisms underlying muscular dystrophy [PDF]
, 2014 The muscular dystrophies are a group of heterogeneous genetic diseases characterized by progressive degeneration and weakness of skeletal muscle. Since the discovery of the first muscular dystrophy gene encoding dystrophin, a large number of genes have ...
Kunkel, Louis M., Rahimov, Fedik
core +1 more source