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Nervous System Diseases > Neuromuscular Diseases > Muscular Diseases > Myopathies, Structural, Congenital > Myopathy, Central Core
Musculoskeletal Diseases > Muscular Diseases > Myopathies, Structural, Congenital > Myopathy, Central Core

Preferred term

Myopathy, Central Core  

Type

  • Topical Descriptor

Broader concept

Entry terms

  • Central Core Disease
  • Central Core Disease of Muscle
  • Central Core Diseases
  • Central Core Myopathy
  • Shy Magee Syndrome
  • Shy-Magee Syndrome
  • Syndrome, Shy-Magee

Scope note

  • An inherited congenital myopathic condition characterized by weakness and hypotonia in infancy and delayed motor development. Muscle biopsy reveals a condensation of myofibrils and myofibrillar material in the central portion of each muscle fiber. (Adams et al., Principles of Neurology, 6th ed, p1452)

History note

  • 2000; for CENTRAL CORE DISEASE & SHY-MAGEE SYNDROME use NEMALINE MYOPATHY 1994-1999

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URI

http://www.yso.fi/onto/mesh/D020512

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