Descriptors Found: 1
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Descriptor English:   Myopathies, Nemaline 
Descriptor Spanish:   Miopatías Nemalínicas 
Descriptor Portuguese:   Miopatias da Nemalina 
Synonyms English:   Adult Onset Nemaline Myopathy
Autosomal Dominant Nemaline Myopathy
Autosomal Recessive Nemaline Myopathy
Childhood Onset Nemaline Myopathy
Late Onset Nemaline Myopathy
Nemaline Body Disease
Nemaline Myopathy
Nemaline Myopathy, Adult Onset
Nemaline Myopathy, Autosomal Dominant
Nemaline Myopathy, Autosomal Recessive
Nemaline Myopathy, Childhood Onset
Nemaline Myopathy, Late Onset
Nemaline Rod Disease
Rod Body Disease
Rod Myopathy
Rod-Body Myopathy
Myopathies, Rod
Myopathies, Rod-Body
Myopathy, Rod Body
Rod Body Myopathy
Rod Myopathies
Rod-Body Myopathies
Myopathy, Nemaline
Myopathy, Rod
Nemaline Myopathies
Myopathy, Rod-Body  
Tree Number:   C05.651.575.290
Definition English:   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) 
History Note English:   2000(1994) 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications DI diagnosis
DG diagnostic imaging DH diet therapy
DT drug therapy EC economics
EM embryology EN enzymology
EP epidemiology EH ethnology
ET etiology GE genetics
HI history IM immunology
ME metabolism MI microbiology
MO mortality NU nursing
PS parasitology PA pathology
PP physiopathology PC prevention & control
PX psychology RT radiotherapy
RH rehabilitation SU surgery
TH therapy UR urine
VE veterinary VI virology
Record Number:   31278 
Unique Identifier:   D017696 

Occurrence in VHL: