Results 11 to 20 of about 2,940 (145)

Nonaka myopathy: First report of a rare mutation c.1702T>Cfrom India

IP Indian Journal of Neurosciences
Nonaka myopathy is an autosomal recessive muscle disease which is slowly progressive. It typically presents between age 20 and 40 years with bilateral foot drop caused by tibialis anterior muscle weakness. Subsequently involvement of the posterior compartment of the leg, followed by involvement of hamstrings, then hip girdle muscles occur, with ...
Somarajan Anandan, Divine S Shajee, Jyothish P Kumar, Sajeesh S Rajendran, Sourav Asha Somarajan   +4 more
openaire   +3 more sources

Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. [PDF]

Muscle Nerve
Abstract Introduction/Aims Heterogeneous nuclear ribonucleoprotein A1 is involved in nucleic acid homeostatic functions. The encoding gene HNRNPA1 has been associated with several neuromuscular disorders including an amyotrophic lateral sclerosis‐like phenotype, distal hereditary motor neuropathy, multisystem proteinopathy, and various myopathies.
Turner J, Bruels CC, Daugherty AL, Estrella EA, Stafki S, Syeda SB, Littel HR, Pais L, Ganesh VS, Lidov HGW, Paine SML, Maddison P, Harrison RE, Straub V, Ghosh PS, Pacak CA, Kunkel LM, Draper I, Topf A, Kang PB.   +19 more
europepmc   +2 more sources

Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review

Clinical Case Reports, Volume 10, Issue 4, April 2022., 2022
A novel insertion mutation c.*1037_*1038CACACACACACACACACACACA was identified in a GNE myopathy patient with congenital thrombocytopenia. The patient's congenital thrombocytopenia was found prior to the muscle weakness. Abstract We reported a GNE myopathy with congenital thrombocytopenia on a young male patient.
Zhouwei Xu, Jingyan Xiang, Xinghua Luan, Zhi Geng, Li Cao   +4 more
wiley   +1 more source

Expanding the clinicopathological‐genetic spectrum of GNE myopathy by a Chinese neuromuscular centre

Journal of Cellular and Molecular Medicine, Volume 25, Issue 22, Page 10494-10503, November 2021., 2021
Abstract GNE myopathy is a heterogeneous group of ultrarare neuromuscular disorders caused by mutations in the GNE gene. An estimated prevalence of 1~21/1,000,000 leads to a deficiency of data and a lack of availability of samples to conduct clinical research on this neuromuscular disorder.
Kai‐Yue Zhang, Hui‐Qian Duan, Qiu‐Xiang Li, Yue‐Bei Luo, Fang‐Fang Bi, Kun Huang, Huan Yang   +6 more
wiley   +1 more source

Sialylation acts as a checkpoint for innate immune responses in the central nervous system

Glia, Volume 69, Issue 7, Page 1619-1636, July 2021., 2021
Main Points Sialic acid residues coat CNS cells, particularly neurons, and are added by sialyltransferases and removed by neuraminidases. Sialylation is sensed by complement factors and SIGLECs, thereby acting as a checkpoint for innate immunity in the CNS.
Christine Klaus, Huan Liao, David H. Allendorf, Guy C. Brown, Harald Neumann   +4 more
wiley   +1 more source

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases. [PDF]

Hum Mutat
GNE myopathy (GNEM) is a rare autosomal recessive disorder characterized by progressive skeletal muscle wasting starting in early adulthood. The prevalence of GNEM is estimated to range between one and nine cases per million individuals, but the accuracy of these estimates is limited by underdiagnosis, misdiagnosis, and bias introduced by founder ...
Derksen A, Thompson R, Shaikh M, Spendiff S, Perkins TJ, Lochmüller H.   +5 more
europepmc   +2 more sources

Progression of myopathology in Kearns-Sayre syndrome [PDF]

, 1992
We report on the progression of myopathology by comparing two biopsies from a patient with a Kearns-Sayre-Syndrome. The first biopsy was taken in 1979 and showed 10% ragged-red fibers.
B. Meurers, CT Moraes, H Reichmann, Heinz Reichmann, I Nonaka, JA Morgan-Hughes, M. Naumann, P. Seibel, R. Gold, T. Klopstock, U. Walter, V Dubowitz   +11 more
core   +1 more source

GNE myopathy: from clinics and genetics to pathology and research strategies

Orphanet Journal of Rare Diseases, 2018
GNE myopathy is an ultra-rare autosomal recessive disease, which starts as a distal muscle weakness and ultimately leads to a wheelchair bound state.
Oksana Pogoryelova, José Andrés González Coraspe, Nikoletta Nikolenko, Hanns Lochmüller, Andreas Roos   +4 more
doaj   +1 more source

Clinical and genetic characteristics of Nonaka myopathy (GNE-myopathy) in russian patients

Neuromuscular Diseases, 2019
Clinical and genetic characteristics of 9patients with Nonaka myopathy (GNE-myopathy) from Russia are presented. As a result of exom sequencing, 11 different mutations were revealed in the GNE gene, 8 of which were described earlier, and 3 – Сys203Ser, Met263CysfsTer and deletion of the whole gene — were detected for the first time.
E. L. Dadali, I. V. Sharkova, G. E. Rudenskaya, S. S. Nikitin, A. F. Murtazina, O. P. Ryzhkova, A. L. Chukhrova   +6 more
openaire   +3 more sources

Nationwide patient registry for GNE myopathy in Japan [PDF]

, 2014
BACKGROUND: GNE myopathy is a slowly progressive autosomal recessive myopathy caused by mutations in the GNE (glucosamine (UDP-N-acetyl)-2-epimerase/N-acetylmannosamine kinase) gene.
En Kimura, Harumasa Nakamura, Ichizo Nishino, Madoka Mori-Yoshimura, Miho Murata, Naohiro Yonemoto, Shin’ichi Takeda, Yukiko K Hayashi   +7 more
core   +1 more source