Molecular Genetics &Genomic Medicine, Volume 8, Issue 11, November 2020., 2020 We present the first molecularly confirmed case reports of Colombian patients, diagnosed initially with Pearson Marrow‐Pancreas Syndrome, who later evolved to Kearns‐Sayre Syndrome. The first case report is a female patient with a single‐large scale mitochondrial DNA deletion, while the second case report is a female patient with a mitochondrial DNA ...
Vanessa Sabella‐Jiménez +3 more
wiley +1 more source
Solution structure of the inner DysF domain of myoferlin and implications for limb girdle muscular dystrophy type 2b [PDF]
, 2008 Mutations in the protein dysferlin, a member of the ferlin family, lead to limb girdle muscular dystrophy type 2B and Myoshi myopathy. The ferlins are large proteins characterised by multiple C2 domains and a single C-terminal membrane-spanning helix ...
Achanzar +70 more
core +1 more source
The Mitochondrial Myopathy, Encephalopathy, Lactic Acidosis, and Stroke-like Episode Syndrome-associated Human Mitochondrial tRNALeu(UUR) Mutation Causes Aminoacylation Deficiency and Concomitant Reduced Association of mRNA with Ribosomes [PDF]
, 2000 The pathogenetic mechanism of the mitochondrial tRNALeu(UUR) A3243G transition associated with the mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes (MELAS) syndrome has been investigated in transmitochondrial cell lines ...
Attardi, Giuseppe +4 more
core +1 more source
Congenital muscular dystrophy: from muscle to brain. [PDF]
, 2016 Congenital muscular dystrophies (CMDs) are a wide group of muscular disorders that manifest with very early onset of muscular weakness, sometime associated to severe brain involvement.The histologic pattern of muscle anomalies is typical of dystrophic ...
Corsello G +7 more
core +1 more source
The consequences of nuclear transfer for mammalian foetal development and offspring survival : a mitochondrial DNA perspective [PDF]
, 2004 Review of the articleThe introduction of nuclear transfer (NT) and other technologies that involve embryo reconstruction require us to reinvestigate patterns of mitochondrial DNA (mtDNA) transmission, transcription and replication.
Anderson +80 more
core +1 more source
Proteolytic Processing of OPA1 Links Mitochondrial Dysfunction to Alterations in Mitochondrial Morphology [PDF]
, 2006 Many muscular and neurological disorders are associated with mitochondrial dysfunction and are often accompanied by changes in mitochondrial morphology.
Attardi, Giuseppe +11 more
core +2 more sources
Amyloid deposits and inflammatory infiltrates in sporadic inclusion body myositis: the inflammatory egg comes before the degenerative chicken [PDF]
, 2015 International ...
Baziel G. M. van Engelen +5 more
core +3 more sources
Loss of FHL1 induces an age-dependent skeletal muscle myopathy associated with myofibrillar and intermyofibrillar disorganization in mice [PDF]
, 2013 Recent human genetic studies have provided evidences that sporadic or inherited missense mutations in four-and-a-half LIM domain protein 1 (FHL1), resulting in alterations in FHL1 protein expression, are associated with rare congenital myopathies ...
Banerjee, Indroneal +20 more
core +2 more sources
, 2022 Research and Practice in Thrombosis and Haemostasis, Volume 6, Issue S1, October 2022.
wiley +1 more source
Unusual multisystemic involvement and a novel BAG3 mutation revealed by NGS screening in a large cohort of myofibrillar myopathies [PDF]
, 2008 Background: Myofibrillar myopathies (MFM) are a group of phenotypically and genetically heterogeneous neuromuscular disorders, which are characterized by protein aggregations in muscle fibres and can be associated with multisystemic involvement ...
JL De Bleecker +60 more
core +5 more sources