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
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
Progression of myopathology in Kearns-Sayre syndrome [PDF]
, 1992 We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers +11 more
core +1 more source
GNE myopathy: from clinics and genetics to pathology and research strategies
Orphanet Journal of Rare Diseases, 2018 GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova +4 more
doaj +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
Nationwide patient registry for GNE myopathy in Japan [PDF]
, 2014 BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura +7 more
core +1 more source
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
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
Very Rare Complementation between Mitochondria Carrying Different Mitochondrial DNA Mutations Points to Intrinsic Genetic Autonomy of the Organelles in Cultured Human Cells [PDF]
, 2000 In the present work, a large scale investigation was done regarding the capacity of cultured human cell lines (carrying in homoplasmic form either the mitochondrial tRNALys A8344G mutation associated with the myoclonic epilepsy and ragged red fiber ...
Attardi, Giuseppe +3 more
core +1 more source
Digenic mutational inheritance of the integrin alpha 7 and the myosin heavy chain 7B genes causes congenital myopathy with left ventricular non-compact cardiomyopathy [PDF]
, 2013 BACKGROUND: We report an Italian family in which the proband showed a severe phenotype characterized by the association of congenital fiber type disproportion (CFTD) with a left ventricular non-compaction cardiomyopathy (LVNC).
Antonio Varone +10 more
core +1 more source