- Concept UI
- M0026760
- Scope Note
- A group of inherited congenital myopathic conditions characterized clinically by weakness, hypotonia, and prominent hypoplasia of proximal muscles including the face. Muscle biopsy reveals large numbers of rod-shaped structures beneath the muscle fiber plasma membrane. This disorder is genetically heterogeneous and may occasionally present in adults. (Adams et al., Principles of Neurology, 6th ed, p1453)
- Terms
-
Myopathies, Nemaline
Preferred Term
Term UI
T365789
Date11/08/1999
LexicalTag
NON
ThesaurusID
-
Myopathy, Rod
Term UI
T373392
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Myopathy, Rod-Body
Term UI
T372779
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Nemaline Body Disease
Term UI
T842115
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Nemaline Myopathies
Term UI
T373393
Date11/08/1999
LexicalTag
NON
ThesaurusID
NLM (2000)
-
Myopathy, Nemaline
Term UI
T052932
Date08/10/1992
LexicalTag
NON
ThesaurusID
-
Nemaline Rod Disease
Term UI
T842116
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Rod Body Disease
Term UI
T842117
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)
-
Rod Myopathy
Term UI
T052930
Date08/10/1992
LexicalTag
NON
ThesaurusID
-
Rod-Body Myopathy
Term UI
T372778
Date11/08/1999
LexicalTag
NON
ThesaurusID
-
Nemaline Myopathy
Term UI
T842114
Date04/18/2013
LexicalTag
NON
ThesaurusID
GHR (2014)