Results 11 to 20 of about 1,189 (168)

Expanding the Differential Diagnosis of Ultrasonographic Flexor Digitorum Profundus-Flexor Carpi Ulnaris Dissociation of Echogenicity: Muscular Dystrophies. [PDF]

Muscle Nerve
ABSTRACT Introduction/Aims Dissociation of echogenicity of the flexor digitorum profundus (FDP) and flexor carpi ulnaris (FCU) on neuromuscular ultrasound has been reported to be a useful sign to differentiate inclusion body myositis (IBM) from more common disease mimics, but it is not clear that this finding is pathognomonic of IBM. Our study aimed to
Wilks AW, Chahin N.
europepmc   +2 more sources

Clinical and Genetic Characterization of the Largest Cohort of Patients With D3 Limb-Girdle Muscular Dystrophy in an Isolated Uruguayan Population. [PDF]

Eur J Neurol
LGMD D3 in Uruguay presents as a slowly progressive adult‐onset scapulo‐pelvic‐peroneal dystrophy. Pathogenic variant c.1132G>C p.(Asp378His) was confirmed in all participants. This is the largest LGMD D3 cluster and first report of sex‐dependent age of onset.
Demicheli E, Zamora A, Sánchez N, Colistro V, Vicente B, Salazar E, Chiesa M, Santos A, Benvenuto F, Sans M, Vázquez MC.   +10 more
europepmc   +2 more sources

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, May Christine V. Malicdan, S. Noguchi   +2 more
openalex   +4 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

Clinical and molecular genetic analysis in Chinese patients with distal myopathy with rimmed vacuoles [PDF]

Journal of Human Genetics, 2011
Distal myopathy with rimmed vacuoles (DMRVs) is an autosomal recessive vacuolar myopathy that has been reported in different ethnic populations with the common mutations of UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase (GNE) gene. We presented the clinical, pathological and genetic characteristics of eight Chinese DMRV patients from ...
Honghao Li, Qi Chen, Fuchen Liu, Xuemei Zhang, Tao Liu, Wei Li, Shuping Liu, Yuying Zhao, Bing Wen, Tingjun Dai, Pengfei Lin, Yaoqin Gong, Chuanzhu Yan   +12 more
openalex   +3 more sources

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

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

Distal Myopathy with Rimmed Vacuoles Confirmed by Whole Exome Sequencing [PDF]

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
openalex   +3 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