- Concept UI
- M0328271
- 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)
- Terms
-
Myopathy, Central Core
Preferred Term
Term UI
T358271
Date10/12/1999
LexicalTag
NON
ThesaurusID
-
Central Core Disease
Term UI
T052929
Date08/10/1992
LexicalTag
NON
ThesaurusID
-
Central Core Disease of Muscle
Term UI
T752586
Date06/10/2009
LexicalTag
NON
ThesaurusID
-
Central Core Myopathy
Term UI
T369254
Date10/12/1999
LexicalTag
NON
ThesaurusID
-
Shy-Magee Syndrome
Term UI
T052931
Date08/10/1992
LexicalTag
EPO
ThesaurusID