Keyphrases
Myopathy
100%
Novel mutation
100%
Slow Progression
100%
Limb-girdle
100%
Transportin 3
100%
Muscle Biopsy
33%
Transportinopathy
33%
Heterozygous mutation
16%
Autosomal Dominant
16%
Protein Expression
16%
Histopathological Features
16%
Clinical Examination
16%
Protein Aggregation
16%
Molecular Pathways
16%
Frameshift
16%
Protein Drug
16%
Pathological Findings
16%
Clinical Genetics
16%
Stop Codon
16%
Clinical Phenotype
16%
Nucleocytoplasmic Shuttling
16%
Kindred
16%
Affected Family Members
16%
Pathomechanism
16%
Expression Study
16%
Transfected Cells
16%
Protein Turnover
16%
Cargo Protein
16%
Distal Weakness
16%
Splicing Factor
16%
Gene Defects
16%
Gene Panel
16%
C-term
16%
Shuttling Protein
16%
Subsarcolemmal
16%
Muscle MRI
16%
MRI Biopsy
16%
Annulate Lamellae
16%
Early Onset Myopathies
16%
Complex Pore Structure
16%
LGMD1F
16%
SRRM2
16%
Molecular Genetic Features
16%
Biochemistry, Genetics and Molecular Biology
Autosomal Dominant Inheritance
100%
Protein Expression
100%
Stop Codon
100%
Nuclear Transport
100%
Molecular Genetics
100%
Protein Aggregation
100%
Splicing Factor
100%
Protein Degradation
100%
Magnetic Resonance Imaging
100%
Neuroscience
Muscle Disorder
100%
Protein Expression
50%
Magnetic Resonance Imaging
50%
Protein Aggregation
50%
Nuclear Transport
50%
Stop Codon
50%
Electromyography
50%
Splicing Factor
50%