No abstract available
MeSH terms
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Child
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Codon
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DNA Mutational Analysis
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Disease Progression
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Exons / genetics
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GTP Phosphohydrolases / chemistry
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GTP Phosphohydrolases / genetics*
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GTP-Binding Proteins
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Genetic Markers / genetics
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Genetic Predisposition to Disease / genetics*
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Genotype
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Humans
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Male
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Membrane Proteins
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Muscle Weakness / genetics
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Muscle Weakness / pathology
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Muscle Weakness / physiopathology
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Muscle, Skeletal / innervation
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Muscle, Skeletal / pathology
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Muscle, Skeletal / physiopathology*
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Muscular Atrophy / genetics
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Muscular Atrophy / pathology
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Muscular Atrophy / physiopathology
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Mutation / genetics*
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Peripheral Nerves / pathology
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Peripheral Nerves / physiopathology
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Peripheral Nervous System Diseases / genetics
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Peripheral Nervous System Diseases / pathology
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Peripheral Nervous System Diseases / physiopathology
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Phenotype
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Protein Structure, Tertiary / genetics
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Severity of Illness Index
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Spastic Paraplegia, Hereditary / genetics*
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Spastic Paraplegia, Hereditary / pathology
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Spastic Paraplegia, Hereditary / physiopathology
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Sural Nerve / pathology
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Wallerian Degeneration / genetics
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Wallerian Degeneration / pathology
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Wallerian Degeneration / physiopathology
Substances
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Codon
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Genetic Markers
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Membrane Proteins
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ATL1 protein, human
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GTP Phosphohydrolases
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GTP-Binding Proteins