Descriptors Found: 1
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Descriptor English:   Myopathies, Structural, Congenital 
Descriptor Spanish:   Miopatías Estructurales Congénitas 
Descriptor Portuguese:   Miopatias Congênitas Estruturais 
Synonyms English:   Autosomal Dominant Myotubular Myopathy
Autosomal Recessive Centronuclear Myopathy
Congenital Fiber-Type Disproportion
Congenital Myopathy with Fiber Type Disproportion
Congenital Non-Progressive Myopathies
Congenital Structural Myopathies
Fiber-Type Disproportion Myopathy, Congenital
Myopathy, Centronuclear, 1
Myopathy, Centronuclear, Autosomal Dominant
Myopathy, Congenital, With Fiber-Type Disproportion
Myopathy, Tubular Aggregate
Myotubular Myopathy
Myotubular Myopathy 1
Myotubular Myopathy, Autosomal Dominant
Myotubular Myopathy, X-Linked
Non-Progressive Myopathies, Congenital
Structural Myopathies, Congenital
X-Linked Centronuclear Myopathy
X-Linked Myotubular Myopathy
Aggregate Myopathies, Tubular
Aggregate Myopathy, Tubular
Centronuclear Myopathies
Centronuclear Myopathies, X-Linked
Centronuclear Myopathy, X-Linked
Congenital Fiber-Type Disproportions
Congenital Non Progressive Myopathies
Congenital Non-Progressive Myopathy
Congenital Structural Myopathy
Disproportion, Congenital Fiber-Type
Disproportions, Congenital Fiber-Type
Fiber Type Disproportion Myopathy, Congenital
Fiber-Type Disproportion, Congenital
Fiber-Type Disproportions, Congenital
Myopathies, Centronuclear
Myopathies, Congenital Non-Progressive
Myopathies, Congenital Structural
Myopathies, Myotubular
Myopathies, Tubular Aggregate
Myopathies, X-Linked Centronuclear
Myopathies, X-Linked Myotubular
Myopathy, Centronuclear
Myopathy, Congenital Non-Progressive
Myopathy, Congenital Structural
Myopathy, X-Linked Centronuclear
Myopathy, X-Linked Myotubular
Myotubular Myopathies
Myotubular Myopathies, X-Linked
Myotubular Myopathy, X Linked
Non Progressive Myopathies, Congenital
Non-Progressive Myopathy, Congenital
Structural Myopathy, Congenital
Tubular Aggregate Myopathies
X Linked Centronuclear Myopathy
X Linked Myotubular Myopathy
X-Linked Centronuclear Myopathies
X-Linked Myotubular Myopathies
Centronuclear Myopathy
Congenital Fiber Type Disproportion
Myopathy, Myotubular
Tubular Aggregate Myopathy  
Tree Number:   C05.651.575
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 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:   34194 
Unique Identifier:   D020914 

Occurrence in VHL: