Novel compound heterozygous mutations in a GNE myopathy with congenital thrombocytopenia: A case report and literature review [PDF]
Clinical Case Reports, 2022 We reported a GNE myopathy with congenital thrombocytopenia on a young male patient. He presented with a 3‐year history of lower distal extremity weakness initially affecting his legs.
Zhouwei Xu +4 more
doaj +2 more sources
GNE myopathy with premature ovarian failure: Case report and review of the literature [PDF]
Molecular Genetics and Metabolism ReportsGNE myopathy (GNE-M) is an ultra-rare disease characterized by muscle weakness in the extremities. The main etiology is that a pathogenic variation in the GNE gene leads to a reduction in sialic acid synthesis.
Shangyi Yang, Jine Yang
doaj +2 more sources
Ion Mobility QTOF-MS Untargeted Lipidomics of Human Serum Reveals a Metabolic Fingerprint for GNE Myopathy [PDF]
MoleculesGNE myopathy, also known as hereditary inclusion body myopathy (HIBM), is a rare genetic muscle disorder marked by a gradual onset of muscle weakness in young adults.
Cristina Manis +9 more
doaj +2 more sources
Fighting the Cause of Alzheimer’s and GNE Myopathy [PDF]
Frontiers in Neuroscience, 2018 Age is the common risk factor for both neurodegenerative and neuromuscular diseases. Alzheimer disease (AD), a neurodegenerative disorder, causes dementia with age progression while GNE myopathy (GNEM), a neuromuscular disorder, causes muscle ...
Shreedarshanee Devi +3 more
doaj +2 more sources
Genetic and Clinical Spectrum of GNE Myopathy in Russia [PDF]
Genes, 2022 Artem Borovikov +2 more
exaly +2 more sources
Expanding the clinicopathological-genetic spectrum of GNE myopathy by a Chinese neuromuscular centre [PDF]
Journal of Cellular and Molecular Medicine, 2021 Yue-Bei Luo, Huan Yang, Kun Huang
exaly +2 more sources
Novel missense variants associated with GNE myopathy
GNE myopathy is a rare autosomal recessive skeletal muscle disorder characterized by progressive distal muscle weakness, typically starting in the lower legs and gradually involving proximal muscle groups.
Ranta-aho J +19 more
europepmc +3 more sources
Generation and characterization of a novel gne Knockout Model in Zebrafish
Frontiers in Cell and Developmental Biology, 2022 GNE Myopathy is a rare, recessively inherited neuromuscular worldwide disorder, caused by a spectrum of bi-allelic mutations in the human GNE gene. GNE encodes a bi-functional enzyme responsible for the rate-limiting step of sialic acid biosynthesis ...
Hagay Livne +7 more
doaj +1 more source
GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges [PDF]
Neurotherapeutics, 2018 Marjan Huizing +2 more
exaly +2 more sources
In vivo and in vitro genome editing to explore GNE functions
Frontiers in Genome Editing, 2022 GNE myopathy is an adult onset neuromuscular disorder characterized by slowly progressive distal and proximal muscle weakness, caused by missense recessive mutations in the GNE gene.
Nili Ilouz +6 more
doaj +1 more source