Characteristic clinical and ultrastructural findings in nesprinopathies. [electronic resource]
Producer: 20190508Description: 254-261 p. digitalISSN:- 1532-2130
- Adolescent
- Child
- Child, Preschool
- Cytoskeletal Proteins
- Female
- Humans
- Male
- Muscle, Skeletal -- pathology
- Mutation
- Nerve Tissue Proteins -- genetics
- Neuromuscular Diseases -- genetics
- Nuclear Envelope -- pathology
- Nuclear Proteins -- genetics
- Phenotype
- Schwann Cells -- pathology
- Thumb -- abnormalities
- Young Adult
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Publication Type: Case Reports; Journal Article
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