Results 131 to 140 of about 1,745 (185)

Novel missense variants in CFL2 affect F-actin depolymerisation and expand the disease spectrum of CFL2-related myopathy. [PDF]

Hum Mol Genet
Dofash LNH, Folland C, Dyke J, Farhat E, Chaabouni M, Miladi N, Needham M, Lamont PJ, Ashton C, Ravenscroft G.   +9 more
europepmc   +1 more source

cN1A Antibody-Positive Inclusion Body Myositis Following Seminoma Manifesting With Slowly Progressive Paraparesis: A Case Report. [PDF]

Cureus
Finsterer J.
europepmc   +1 more source

[Not just frailty-Sjögren's syndrome and polymyositis with mitochondrial pathology]. [PDF]

Z Rheumatol
Kremer P, Melderis S, Matschke J, Stenzel W, Kötter I, Krusche M, Holzer MT.   +6 more
europepmc   +1 more source

Preserved Forearm and Hand Muscles and Diaphragm with Mild Cardiac and Respiratory Involvement in a Patient with GNE Myopathy Harboring Homozygous Variants in GNE (c.1807G>C, p.V603L) over Four Decades after the Onset. [PDF]

Intern Med
Sakai K, Yamada S, Higuchi Y, Nishino I.
europepmc   +1 more source

Novel missense variants associated with GNE myopathy

Ranta-aho J, Cetrangolo V, Bello L, Capece G, Pegoraro E, Di Feo MF, Mihaylova V, Jung HH, Hauw F, Stojkovic T, Behin A, Romero N, Maisonobe T, Lucchini M, Santos MO, Mirabella M, Tasca G, Savarese M, Udd B, Johari M.   +19 more
europepmc   +1 more source

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Distal myopathy with rimmed vacuoles

Neuromuscular Disorders, 1998
Distal myopathy with rimmed vacuoles is an autosomal recessively inherited disorder with preferential involvement of the anterior tibial muscle. Recently the gene was discovered to be mapped to chromosome 9, the same region as in familial inclusion body myopathy (rimmed vacuole myopathy sparing the quadriceps).
I, Nonaka, N, Murakami, Y, Suzuki, M, Kawai   +3 more
openaire   +4 more sources

Distal myopathy with rimmed vacuoles and hereditary inclusion body myopathy

Current Neurology and Neuroscience Reports, 2005
Distal myopathy with rimmed vacuoles (DMRV) and hereditary inclusion body myopathy (hIBM) share similar clinical features, including onset in young adulthood with preferential involvement of the anterior compartment of the lower legs and sparing of the quadriceps femoris muscles. The most significant muscle pathology is the presence of rimmed vacuoles,
Ikuya, Nonaka, Satoru, Noguchi, Ichizo, Nishino   +2 more
openaire   +4 more sources

Muscle fiber degradation in distal myopathy with rimmed vacuoles

Acta Neuropathologica, 1994
Late-onset distal myopathy showed numerous rimmed vacuoles with the same properties as autophagic vacuoles. Electron microscopy showed numerous degenerated mitochondria, glycogen, or cell membranes in rimmed vacuoles, but no evidence that these vacuoles engulfed and contained intact or partially disrupted myofibrils.
T, Kumamoto, H, Ueyama, S, Watanabe, E, Kominami, M, Ando   +4 more
openaire   +4 more sources