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Recognizable Pattern of Arthrogryposis and Congenital Myopathy Caused by the Recurrent TTN Metatranscript-Only C.39974-11T>g Splice Variant.

Neuropediatrics(2022)

Cited 4|Views22
Key words
congenital titinopathy,myopathy,titin,cardiomyopathy,case series,arthrogryposis
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