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Chapter-43.8 Congenital Myopathies

BOOK TITLE: PG Textbook of Pediatrics: Systemic Disorders and Social Pediatrics (Volume 3)

Author

1. Amburgey Kimberly
2. Lawlor Michael W
3. Dowling James J

ISBN

9789351529569

DOI

10.5005/jp/books/12855_43.8

Edition

1/e

Publishing Year

2015

Pages

Author Affiliations

1. Hospital for Sick Children, Toronto, Ontario, Canada, Hospital for Sick Children, Toronto, ON, Canada, Toronto, Ontario, Canada
2. Medical College of Wisconsin, Milwaukee, Wisconsin, USA, Pediatric Pathology Clinical Neuromuscular Laboratory Division, Milwaukee, Wisconsin, USA
3. Hospital for Sick Children, Toronto, Ontario, Canada

Chapter keywords

Congenital myopathy, CNM, congenital fiber type disproportion, CFTD, creatine kinase, CK, muscle biopsy, genetic testing, core-rod myopathy, centronuclear myopathy

Abstract

Abstract

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