Compound heterozygous POMGNT1 mutations leading to muscular dystrophy-dystroglycanopathy type A3: a case report.

Kondakova Olga BorisovnaKrasnenko Anna YurievnaTsukanov Kirill YurievichKlimchuk Olesya IgorevnaKorostin Dmitriy OlegovichDavidova Anna IgorevnaBatysheva Tatyana TimofeevnaZhurkova Natalia VyacheslavovnaEkaterina Ivanovna SurkovaShatalov Peter AlekseevichIlinsky Valery Vladimirovich

Published in: BMC pediatrics (2019)

The present case report shows diagnostic algorithm step by step and helps better understand the clinical and genetic features of congenital muscular dystrophy.

Keyphrases

muscular dystrophy
case report
duchenne muscular dystrophy
machine learning
early onset
deep learning
genome wide
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