Minimally symptomatic mcardle disease, expanding the genotype-phenotype spectrum

Keyphrases

• Phenotypic Spectrum 100%
• McArdle Disease 100%
• Genotype-phenotype 100%
• Myophosphorylase 75%
• Cypriot 25%
• Western Blot Analysis 25%
• Histochemistry 25%
• Blood Lactate 25%
• PCR Amplification 25%
• Exon 25%
• Restriction Enzyme Analysis 25%
• Ammonia 25%
• Spectrophotometry 25%
• Exon 10 25%
• Biochemical Detection 25%
• New mutation 25%
• Bi-directional Sequencing 25%
• Mutation Identification 25%
• Ischemic Exercise 25%
• Enzymatic Activity 25%
• Exercise Response 25%
• Molecular Findings 25%

Biochemistry, Genetics and Molecular Biology

• Genotyping 100%
• Glycogen Phosphorylase 100%
• Myophosphorylase 100%
• Exon 66%
• Enzyme Activity 33%
• Enzyme 33%
• Lactate Blood Level 33%
• Restriction Map 33%
• Western Blotting 33%

Neuroscience

• Glycogen Phosphorylase 100%
• Exon 66%
• Enzyme Activity 33%
• Spectrophotometry 33%
• Histochemistry 33%
• Restriction Mapping 33%
• Western Blotting 33%