Insights into phenotypic variability caused by GARS1 pathogenic variants - Jiménez‐Jiménez, Jesús; Navarrete, Irene; Azorín, Inmaculada; Martí, Pilar; Vílchez, Roger; Muelas, Nuria; Cabello‐Murgui, Javier; Millet, Elvira; Vázquez‐Costa, Juan Francisco; Vílchez, Juan J.; Sevilla, Teresa; Sivera, Rafael (European journal of neurology, 2024)
Keywords: Adolescent; Adult; Atrophy; axonal CMT; Biopsy; Charcot-Marie-Tooth disease; Charcot-Marie-Tooth Disease - diagnostic imaging; Charcot-Marie-Tooth Disease - genetics; Charcot-Marie-Tooth Disease - pathology; Charcot-Marie-Tooth Disease - physiopathology; Child; Child, Preschool; Cross-Sectional Studies; Density; Female; GARS1 gene; Genetic variability; Glycine-tRNA Ligase - genetics; Hereditary Sensory and Motor Neuropathy - genetics; Hereditary Sensory and Motor Neuropathy - pathology; Hereditary Sensory and Motor Neuropathy - physiopathology; Humans; Magnetic Resonance Imaging; Male; Muscle, Skeletal - diagnostic imaging; Muscle, Skeletal - pathology; Muscle, Skeletal - physiopathology; Muscles; Mutation, Missense; Nerve conduction; Nerve endings; Nerves; Neural Conduction - physiology; Neuropathies; Neuropathy; Observational studies; Original; Phenotype; Phenotypes; Retrospective Studies; Sensory neurons; Skin; skin biopsy; Spinal muscular atrophy; split hand; tRNA; Young Adult; Charcot–Marie–Tooth disease; GARS1 gene; axonal CMT; split hand; skin biopsy