Population
36 relatives of 9 unrelated patients with myoadenylate deaminase (MAD) deficiency
Comparison
Standardized ischemic forearm test… vs Healthy controls (for enzyme activity comparison)
Design
Cross-sectional
Authors
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Most MAD-deficient cases lack myalgia; leaves open clinical relevance and supports further genetic validation studies.
The study suggests MAD deficiency is inherited in an autosomal recessive manner but questions its clinical significance as most deficient individuals are asymptomatic.
Sinkeler et al. (1988) studied this question.
Synapse has enriched 2 closely related papers on similar clinical questions. Consider them for comparative context: