Population
5 male patients presenting with early childhood onset myopathy, proximal limb weakness, elevated serum…
Design
Case_series
Authors
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Alerts clinicians to consider this entity without cardiac workup; leaves open genetic mechanisms and autophagy-targeted therapies.
Describes a novel X-linked congenital myopathy characterized by excessive autophagy without cardiac involvement.
Kalimo et al. (1988) studied this question.
Synapse has enriched 3 closely related papers on similar clinical questions. Consider them for comparative context: