Results 91 to 100 of about 1,745 (185)

Mutations in the J domain of DNAJB6 cause dominant distal myopathy [PDF]

, 2019
Eight patients from five families with undiagnosed dominant distal myopathy underwent clinical, neurophysiological and muscle biopsy examinations. Molecular genetic studies were performed using targeted sequencing of all known myopathy genes followed by ...
Bengoechea, Rocio, Hackman, Peter, Inoue, Michio, Jokela, Manu, Jonson, Per Harald, Kerty, Emilia, Masingue, Marion, Nakagawa, Masanori, Nishino, Ichizo, Noguchi, Satoru, Olivé, Montse, Palmio, Johanna, Sarparanta, Jaakko, Savarese, Marco, Udd, Bjarne, Vihola, Anna, Weihl, Conrad C.   +16 more
core   +1 more source

Myofibrillar myopathies: new developments [PDF]

, 2018
Purpose of review: Myofibrillar myopathies (MFMs) are a heterogeneous group of skeletal and cardiac muscle diseases. In this review, we highlight recent discoveries of new genes and disease mechanisms involved in this group of disorders.Recent findings ...
Goldfarb, Lev G., Kley, Rudolf A., Olivé i Plana, Montserrat   +2 more
core   +1 more source

Human induced pluripotent stem cell-derived myotubes to model inclusion body myositis

Acta Neuropathologica Communications
Inclusion body myositis (IBM) is an inflammatory myopathy that displays proximal and distal muscle weakness. At the histopathological level, the muscles of IBM patients show inflammatory infiltrates, rimmed vacuoles and mitochondrial changes.
Judith Cantó-Santos, Laura Valls-Roca, Ester Tobías, Francesc Josep García-García, Mariona Guitart-Mampel, Félix Andújar-Sánchez, Adrià Vilaseca-Capel, Anna Esteve-Codina, Beatriz Martín-Mur, Joan Padrosa, Emma Peruga, Irene Madrigal, Paula Segalés, Carmen García-Ruiz, José Carlos Fernández-Checa, Pedro J. Moreno-Lozano, Albert Selva O’Callaghan, Ana Sevilla, José César Milisenda, Glòria Garrabou   +19 more
doaj   +1 more source

Restictive cardiomyopathy with complete atrioventricular block and distal myopathy with rimmed vaculoles.

Japanese Circulation Journal, 1993
Two-dimensional echocardiography, cardiac catheterization, electrophysiologic studies, and biopsies of cardiac and skeletal muscle were performed in a patient with complete atrioventricular block as the initial manifestation of restrictive cardiomyopathy. The patient also showed distal myopathy with rimmed vacuoles.
S, Ishiwata, S, Nishiyama, A, Seki, S, Kojima   +3 more
openaire   +3 more sources

Publication Only

HemaSphere, Volume 9, Issue S1, June 2025.
wiley   +1 more source

Desmin forms toxic, seeding-competent amyloid aggregates that persist in muscle fibers [PDF]

, 2019
Desmin-associated myofibrillar myopathy (MFM) has pathologic similarities to neurodegeneration-associated protein aggregate diseases. Desmin is an abundant muscle-specific intermediate filament, and disease mutations lead to its aggregation in cells ...
Arhzaouy, Khalid, Batchelor, Mark, Bieschke, Jan, Kedia, Niraja, Pittman, Sara K., Sun, Yuanzi, Weihl, Conrad C.   +6 more
core   +1 more source

Distal myopathy with rimmed vacuoles: Spectrum of GNE gene mutations in seven Chinese patients. [PDF]

Exp Ther Med, 2018
Su F, Miao J, Liu X, Wei X, Yu X.
europepmc   +1 more source

A clinicopathological study of inclusion body myositis [PDF]

, 2014
Sporadic inclusion body myositis (IBM) is the commonest acquired myopathy in individuals aged over 50 years. Currently, diagnosis is based largely upon specific muscle biopsy findings, though these are thought to lack sensitivity.
Brady, Stefen
core   +1 more source

Homozygous mutation in HSPB1 causing distal vacuolar myopathy and motor neuropathy. [PDF]

, 2017
Blake, JC, Bugiardini, E, Hanna, MG, Holton, JL, Houlden, H, Lynch, DS, Matthews, E, Pittman, AM, Reilly, MM, Rossor, AM, Swash, M   +10 more
core   +2 more sources

Myosinopathies: pathology and mechanisms [PDF]

core   +1 more source