Neonatal myofibrillar myopathy type II associated with biallelic UNC-45B gene novel mutation and perinatal myasthenia as the core phenotype: A case report
Author:
Publisher
Elsevier BV
Subject
Biochemistry (medical),Clinical Biochemistry,Biochemistry,General Medicine
Reference16 articles.
1. New aspects of myofibrillar myopathies;Kley;Curr. Opin. Neurol.,2016
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4. Myotilin, the limb-girdle muscular dystrophy 1A (LGMD1A) protein, cross-links actin filaments and controls sarcomere assembly;Salmikangas;Hum. Mol. Genet.,2003
5. Filamin 2 (FLN2): A muscle-specific sarcoglycan interacting protein;Thompson;J. Cell Biol.,2000
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