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Bialelic Pathogenic (c.830G>A(p.R277Q)) Variant Disrupting the GNE Gene Function and Causes Nonaka myopathy Phenotype
Nonaka myopathy (MIM 605820) is caused by homozygous pathogenic variants in the GNE gene. It is a recessively inherited early adult-onset myopathy...
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Myogenesis defects in a patient-derived iPSC model of hereditary GNE myopathy
Hereditary muscle diseases are disabling disorders lacking effective treatments. UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase (GNE)...
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Safety and efficacy of N-acetylmannosamine (ManNAc) in patients with GNE myopathy: an open-label phase 2 study
PurposeTo evaluate the safety and efficacy of N -acetylmannosamine (ManNAc) in GNE myopathy, a genetic muscle disease caused by deficiency of the...
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Effect of GNE Mutations on Cytoskeletal Network Proteins: Potential Gateway to Understand Pathomechanism of GNEM
GNE myopathy is an inherited neuromuscular disorder caused by mutations in GNE (UDP- N -acetylglucosamine 2-epimerase/ N -acetyl mannosamine kinase) gene...
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Generation and Characterization of a Skeletal Muscle Cell-Based Model Carrying One Single Gne Allele: Implications in Actin Dynamics
UDP-N-Acetyl glucosamine-2 epimerase/N-acetyl mannosamine kinase (GNE) catalyzes key enzymatic reactions in the biosynthesis of sialic acid. Mutation...
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Intranuclear inclusions in muscle biopsy can differentiate oculopharyngodistal myopathy and oculopharyngeal muscular dystrophy
Oculopharyngodistal myopathy (OPDM) and oculopharyngeal muscular dystrophy (OPMD) are similar and even believed to be indistinguishable in terms of...
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Congenital thrombocytopenia associated with GNE mutations in twin sisters: a case report and literature review
BackgroundNeonatal thrombocytopenia is common in preterm and term neonates admitted to neonatal intensive care units. The etiology behind neonatal...
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Distal myopathy due to TCAP variants in four unrelated Chinese patients
Distal myopathies are a group of clinically and genetically heterogeneous hereditary muscle disorders characterized by progressive muscular weakness...
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GNE myopathy in Chinese population: hotspot and novel mutations
GNE myopathy is a rare autosomal recessive distal myopathy caused by mutations in UDP- N -acetylglucosamine 2-epimerase/ N -acetylmannosamine kinase...
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GNE Myopathy: Etiology, Diagnosis, and Therapeutic Challenges
GNE myopathy, previously known as hereditary inclusion body myopathy (HIBM), or Nonaka myopathy, is a rare autosomal recessive muscle disease...
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Exome sequencing identifies novel and known mutations in families with intellectual disability
BackgroundIntellectual disability (ID) is a phenotypically and genetically heterogeneous disorder.
MethodsIn this study, genome wide SNP microarray...
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MicroRNAs as a Tool for Differential Diagnosis of Neuromuscular Disorders
Neuromuscular disorders (NMD) are a class of progressive disorders that are characterized by wasting of the muscles. Some of the disorders like...
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Neurological Consequences of Congenital Disorders of Glycosylation
The chapter is devoted to neurological aspects of congenital disorders of glycosylation (CDG)Congenital disorders of glycosylation (CDG). At the...
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Muscular Dystrophy: Underlying Cellular and Molecular Mechanisms and Various Nanotherapeutic Approaches for Muscular Dystrophy
Muscular dystrophy (MD) corresponds to a cluster of approximately 30–40 genetically controlled diseases, which exhibit inheritance patterns that are...
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Correction: GNE myopathy in Chinese population: hotspot and novel mutations
Since the publication of the above article, the authors of the above paper have noticed errors in Author’s affiliation.
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Decoding Dystrophin Gene Mutations: Unraveling the Mysteries of Muscular Dystrophy
Muscular dystrophies are a group of human monogenic disorders causing muscle weaknesses and affecting mobility. Mutations in different genes cause...
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Diagnostic outcome of pro bono neurogenetic diagnostic service in Sri Lanka: A wealth creation
The inherited disease community in Sri Lanka has been widely neglected. This article aimed to present accumulated knowledge in establishing a pro...
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Ubiquitous Neural Cell Adhesion Molecule (NCAM): Potential Mechanism and Valorisation in Cancer Pathophysiology, Drug Targeting and Molecular Transductions
Neural cell adhesion molecule, an integrated molecule of immunoglobulin protein superfamily involved in cell-cell adhesion, undergoes various...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
