Homozygosity for the common GAA gene splice site mutation c.-32-13T>G in Pompe disease is associated with the classical adult phenotypical spectrum

Keyphrases

• Splicing mutation 100%
• Homozygosity 100%
• Pompe Disease 100%
• GAA Gene 100%
• Phenotypical 100%
• Pompe 50%
• HyperCKaemia 50%
• Age of Onset 25%
• Genetic Findings 25%
• Gene mutation 25%
• Homozygote 25%
• Disease Phenotype 25%
• Respiratory Insufficiency 25%
• Lower Limb Strength 25%
• Imaging Findings 25%
• Muscle Biopsy 25%
• Lower Limb muscles 25%
• Biceps Femoris 25%
• Respiratory muscles 25%
• Thigh muscles 25%
• Gluteal muscles 25%
• Fatty Infiltration 25%
• Muscle MRI 25%
• Muscle Imaging 25%
• Myalgia 25%
• Elevated Creatine Kinase 25%
• Exercise-induced Fatigue 25%
• Axial Weakness 25%
• Diaphragm Atrophy 25%
• Phenotype Severity 25%
• Vacuolar Myopathy 25%
• Muscle Genes 25%
• Diaphragm Elevation 25%

Biochemistry, Genetics and Molecular Biology

• Splice Site Mutation 100%
• Homozygosity 100%
• Magnetic Resonance Imaging 66%
• Intron 66%
• Genetics 33%
• Morphology 33%
• Gene Mutation 33%
• Homozygote 33%
• Creatine Kinase 33%