Concept information
Término preferido
Myopathy, Central Core
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Tipo
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mesh:Descriptor
Definición
- 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)
Concepto genérico
Etiquetas alternativas
- Central Core Disease
- Central Core Disease of Muscle
- Central Core Myopathy
- Shy-Magee Syndrome
En otras lenguas
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francés
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Myopathie à central core
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Myopathie à cores centraux
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Myopathie congénitale à central core
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Myopathie congénitale à cores centraux
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Syndrome de Shy-Magee
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Syndrome de Shy-McGee
URI
http://data.loterre.fr/ark:/67375/JVR-QP7Q2LVM-T
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