Search on: MYOPATHIES, STRUCTURAL, CONGENITAL 
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Descriptor English:   Myopathies, Structural, Congenital 
Descriptor Spanish:   Miopatías Estructurales Congénitas 
Descriptor Portuguese:   Miopatias Congênitas Estruturais 
Synonyms English:   Centronuclear Myopathy
Congenital Fiber Type Disproportion
Myopathy, Myotubular
Tubular Aggregate Myopathy  
Tree Number:   C05.651.575
C10.668.491.550
Definition English:   A heterogeneous group of diseases characterized by the early onset of hypotonia, developmental delay of motor skills, non-progressive weakness. Each of these disorders is associated with a specific histologic muscle fiber abnormality. 
History Note English:   2000 
Allowable Qualifiers English:  
BL blood CF cerebrospinal fluid
CI chemically induced CL classification
CO complications CN congenital
DI diagnosis 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 RA radiography
RI radionuclide imaging RT radiotherapy
RH rehabilitation SU surgery
TH therapy US ultrasonography
UR urine VE veterinary
VI virology  
Record Number:   34194 
Unique Identifier:   D020914 

Occurrence in VHL:
 

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