Results 21 to 30 of about 1,189 (168)

Sialic acid supplementation therapy for distal myopathy with rimmed vacuoles (GNE myopathy)

Rinsho Shinkeigaku, 2012
Distal myopathy with rimmed vacuoles or hereditary inclusion body myopathy, for which new nomenclature "GNE myopathy" is now proposed, is an autosomal recessive disease that preferentially affects tibialis anterior and hamstrings muscles in young adults.
Ichizo Nishino, S. Noguchi
openalex   +4 more sources

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series [PDF]

Journal of Medical Case Reports
Background GNE myopathy, also referred to as bifunctional UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase myopathy, is a progressive distal myopathy marked by rimmed vacuoles and linked to a variety of disease-causing genetic variants ...
Shafaq Saleem, Fizza Akbar, Salman Kirmani, Ehtesham Khalid, Sara Khan   +4 more
doaj   +2 more sources

Myotilin gene duplication causing late-onset myotilinopathy. [PDF]

Eur J Neurol
Abstract Background myotilinopathy is a very rare inherited muscle disease that belongs to the group of myofibrillar myopathies. These diseases share a common alteration of the sarcomere organization at the level of the Z disk resulting in pathological protein aggregation, autophagic abnormalities, and ultimately muscle degeneration.
Spinazzi M, Savarese M, Letournel F, Sagath L, Manero F, Guichet A, Hoischen A, Metay C, Gouju J, Udd B.   +9 more
europepmc   +2 more sources

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   +3 more sources

Distal myopathy with rimmed vacuoles and cerebellar atrophy

Pathology & Oncology Research, 2006
Distal myopathies constitute a clinically and pathologically heterogeneous group of genetically determined neuromuscular disorders, where the distal muscles of the upper or lower limbs are affected. The disease of a 41-year-old male patient started with gait disturbances, when he was 25.
Hajnalka Merkli, Endre Pál, Itamar Gati, József Czopf   +3 more
openalex   +3 more sources

Distal Myopathy with Rimmed Vacuoles [PDF]

The American Journal of Pathology, 2005
Youichi Tajima, Eiichiro Uyama, Shinji Go, Chihiro Sato, Nodoka Tao, Masaharu Kotani, H. Hino, Akemi Suzuki, Yutaka Sanai, Ken Kitajima, Hitoshi Sakuraba   +10 more
openalex   +3 more sources

A case report of oculopharyngodistal myopathy with 126 CGG repeat expansions in RILPL1 [PDF]

Frontiers in Genetics
BackgroundOculopharyngodistal myopathy (OPDM) is a rare hereditary muscle disease characterized by progressive ptosis, ophthalmoplegia, dysphagia, dysarthria, and distal muscle weakness. The genetic basis was identified in 2019 with CGG repeat expansions
Wenjing Wang, Wenjing Wang, Wenjing Wang, Tielun Yin, Tielun Yin, Tielun Yin, Xinyu Zhang, Xinyu Zhang, Xinyu Zhang, Zhaoxia Wang, Zhaoxia Wang, Tianyun Wang, Tianyun Wang, Tianyun Wang, Shuo Zhang, Shuo Zhang, Shuo Zhang, Yingshuang Zhang, Yingshuang Zhang, Yingshuang Zhang, Dongsheng Fan, Dongsheng Fan, Dongsheng Fan   +22 more
doaj   +2 more sources

Vacuolar myopathy with monoclonal gammopathy and stiffness (VAMMGAS). [PDF]

Eur J Neurol
Abstract Background Monoclonal gammopathy (MG) has been reported in association with numerous neurological disorders but the spectrum of MG‐associated myopathies remains poorly described. Objective To report a newly acquired myopathy associated with MG.
Staedler K, Allenbach Y, Salort-Campana E, Malfatti E, Rigolet A, Attarian S, Maues de Paula A, Léonard-Louis S, Benveniste O, Stojkovic T.   +9 more
europepmc   +2 more sources

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

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   +2 more sources

The Ubiquitin-Proteasome Pathway in Distal Myopathy with Rimmed Vacuoles

Internal Medicine, 1998
Takahiro Jimi, Yoshihiro Wakayama
openalex   +3 more sources