Evidence-based Guideline: Diagnosis and Treatment of …
Oct 12, 2014 · Echocardiogram performed in 3/7 patients was normal. In contrast to this presentation, an early-onset recessive myopathy with severe cardiomyopathy characterized by delayed milestones and predominantly lower extremity proximal and distal weakness (but also involving proximal upper extremity, trunk, and face weakness and ptosis) has been ... ................
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