Results 11 to 20 of about 1,745 (185)

Analysis of the pathogenicity of novel GNE mutations and clinical, pathological, and genetic characteristics of GNE myopathy in Chinese population [PDF]

Orphanet Journal of Rare Diseases
Background GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE), a bifunctional enzyme critical for sialic acid biosynthesis. This study aimed to describe a
Yingming Xing, Lingqian Zhao, Renlong Zhao, Qiyun Liu, Juan Wang, Le Wang, Wei Zhang, Junhong Guo, Rongjuan Zhao, Xueli Chang   +9 more
doaj   +2 more sources

Novel Mutations in Titin Exon 363 With Different Phenotypes Including a Founder Mutation in Eastern Europe. [PDF]

Eur J Neurol
In six patients from five families, we identified two novel exon 363 pathogenic variants causing recessive titinopathies. Patients with a recurrent Eastern European founder variant presented with juvenile distal titinopathy, while a Belgian family showed an early‐onset titinopathy with contractures.
Sian V, Di Feo MF, Kurbatov S, Vihola A, Luque H, Konovalov F, Peric S, Duffy C, Kornblum C, Claeys KG, Hackman P, Udd B, Savarese M.   +12 more
europepmc   +2 more sources

The clinical features, muscle pathology, and role of autophagy in anti-Ku-positive patients [PDF]

Frontiers in Immunology
AimsThis study aimed to examine the clinical and muscle histological characteristics of anti-Ku-positive patients. A preliminary investigation into the involvement of autophagy was conducted as well.MethodsClinical characteristics, laboratory findings ...
Lingya Qiao, Ying Lin, Mengyang Liu, Jiaqi Liu, Ke Li, Juan Chen, Qiang Shi   +6 more
doaj   +2 more sources

Alpha-Synuclein as a Potential Biomarker for Inclusion Body Myositis in Blood and Muscle. [PDF]

Neuropathol Appl Neurobiol
We examined alpha‐synuclein in muscle and serum samples of patients with IBM and other neuromuscular disorders. With the use of immunohistochemistry, we identify alpha‐synuclein muscular reactivity as a complementary diagnostic marker. Serum alpha‐synuclein levels measured by ELISA were not generally altered in IBM but correlated with disease duration ...
Mayer T, Scholle L, Foerster L, Schneider I, Stoltenburg-Didinger G, Delank KS, Kendzierski T, Koelsch A, Kleeberg K, Kraya T, Barba L, Naegel S, Schänzer A, Otto M, Mensch A.   +14 more
europepmc   +2 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

SNUPN-Related Muscular Dystrophy: Novel Phenotypic, Pathological and Functional Protein Insights. [PDF]

Ann Clin Transl Neurol
ABSTRACT Objective SNUPN‐related muscular dystrophy or LGMDR29 is a new entity that covers from a congenital or childhood onset pure muscular dystrophy to more complex phenotypes combining neurodevelopmental features, cataracts, or spinocerebellar ataxia. So far, 12 different variants have been described.
Muelas N, Iruzubieta P, Damborenea A, Pérez-Fernández L, Azorín I, Jiménez García JC, Töpf A, Martí P, Fores-Toribio L, Manterola M, Blanco-Mañez R, Pikatza-Menoio O, Alonso-Martín S, Straub V, Cortajarena AL, López de Munain A, De Sancho D, Blázquez L, Vilchez JJ.   +18 more
europepmc   +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

Translation of expanded CGG repeats in LRP12 associated oculopharyngodistal myopathy [PDF]

Acta Neuropathologica Communications
Oculopharyngodistal myopathy (OPDM) is characterized by ptosis, ophthalmoparesis, dysphagia, and distal weakness. Myopathological features include rimmed vacuoles and intranuclear inclusions.
Chengcheng Li, Jil A. Daw, Sara K. Pittman, Connor J. Maltby, Hidetoshi Sakurai, Peter K. Todd, Conrad C. Weihl   +6 more
doaj   +2 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

Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing

Journal of Life Science, 2014
Distal myopathy with rimmed vacuoles (DMRV) or hereditary inclusion body myopathy 2 is an autosomal recessive muscular disorder characterized by early adult-onset weakness of distal muscles and rimmed vacuoles in muscle biopsy. Mutations in the UDP-N-acetylglucosamine 2-epimerase/N-ace-tylmannosamine kinase (GNE) gene are associated with the ...
Seong Don Seo, Hyung Jun Park, Hyun Seok Song, Hye Jin Kim, Jin-Mo Park, Young Bin Hong, Ki Wha Chung, Byung-Ok Choi   +7 more
openaire   +4 more sources