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
Chinese Journal of Contemporary Neurology and Neurosurgery, 2021 Objective To summarize the clinical phenotypes and genetic mutations of DNAJB6 related myopathies. Methods We retrospectively reviewed the clinical information, laboratory tests, muscle MRIs, electromyography results, muscle pathology examinations and ...
LI Fan +8 more
doaj
Altered myogenesis and premature senescence underlie human TRIM32-related myopathy [PDF]
, 2019 TRIM32 is a E3 ubiquitin -ligase containing RING, B-box, coiled-coil and six C-terminal NHL domains. Mutations involving NHL and coiled-coil domains result in a pure myopathy (LGMD2H/STM) while the only described mutation in the B-box domain is ...
Adams, A. M. +15 more
core +1 more source
Development of therapy for distal myopathy with rimmed vacuoles
Rinsho Shinkeigaku, 2009 Distal myopathy with rimmed vacuoles (DMRV), also called hereditary inclusion body myopathy, is an autosomal recessive disorder caused by homozygous or compound heterozygous missense mutations in GNE which encodes a protein with two enzymatic activities in sialic acid biosynthesis: UDP-GlcNAc 2-epimerase and ManNAc kinase.
Ichizo, Nishino +2 more
openaire +3 more sources
Panorama of the distal myopathies [PDF]
, 2020 Distal myopathies are genetic primary muscle disorders with a prominent weakness at onset in hands and/or feet. The age of onset (from early childhood to adulthood), the distribution of muscle weakness (upper versus lower limbs) and the histological ...
Hackman, P. +8 more
core +1 more source
A novel mutation in GNE gene: clinical characteristics and bioinformatics analysis
Chinese Journal of Contemporary Neurology and Neurosurgery, 2018 Objective To report and summarize clinical phenotype and genotype characteristics in a patient with GNE myopathy, and to extend mutation spectrum of GNE gene.
Liang WANG +7 more
doaj +1 more source
Unravelling inclusion body myositis using a patient‐derived fibroblast model
Journal of Cachexia, Sarcopenia and Muscle, 2023 Background Inclusion body myositis (IBM) is an inflammatory myopathy clinically characterized by proximal and distal muscle weakness, with inflammatory infiltrates, rimmed vacuoles and mitochondrial changes in muscle histopathology.
Judith Cantó‐Santos +18 more
doaj +1 more source
A practical approach to the patient presenting with dropped head [PDF]
, 2016 Head drop, or having a dropped head, is an uncommon condition in which patients present with a disabling inability to lift their head. It may arise in many neurological conditions that can be divided into those with neuromuscular weakness of neck ...
Demicoli, Marija, Marsh, Eleanor A.
core +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
Rhabdomyolysis: a genetic perspective [PDF]
, 2015 Rhabdomyolysis (RM) is a clinical emergency characterized by fulminant skeletal muscle damage and release of intracellular muscle components into the blood stream leading to myoglobinuria and, in severe cases, acute renal failure.
Alice R Gardiner +8 more
core +4 more sources