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DeCS
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Descriptor English:
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Myopathy, Central Core
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Descriptor Spanish:
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Miopatía del Núcleo Central
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Descriptor Portuguese:
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Miopatia da Parte Central
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Synonyms English:
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Central Core Disease
Central Core Disease of Muscle
Central Core Diseases
Central Core Myopathies
Central Core Myopathy
Myopathies, Central Core
Shy Magee Syndrome
Shy-Magee Syndrome
Syndrome, Shy-Magee
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Tree Number:
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C05.651.575.300
C10.668.491.550.300
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Definition English:
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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) |
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History Note English:
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2000; for CENTRAL CORE DISEASE & SHY-MAGEE SYNDROME use NEMALINE MYOPATHY 1994-1999
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Allowable Qualifiers English:
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Record Number:
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34195
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Unique Identifier:
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D020512
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Occurrence in VHL:
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Similar:
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DeCS
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