Congenital myopathy due to myosin heavy chain 2 mutation presenting as chronic aspiration pneumonia in infancy.
Neuromuscular Disorders(2017)
Abstract
•A case of congenital myopathy due to a novel MYH2 mutation is presented.•MYH2 mutation causes recurrent aspiration pneumonia.•MYH2 mutation myopathy can be taken as a differential diagnosis in recurrent pneumonia.
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Key words
Congenital myopathy,Aspiration pneumonia,Myosin heavy chain,MYH2
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