Search on: SARCOGLYCANOPATHIES 
Descriptors Found: 1
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Descriptor English:   Sarcoglycanopathies 
Descriptor Spanish:   Sarcoglicanopatías 
Descriptor Portuguese:   Sarcoglicanopatias 
Synonyms English:   Adhalinopathies
Adhalinopathies, Primary
Adhalinopathy, Primary
Alpha Sarcoglycanopathies
Alpha Sarcoglycanopathy
Alpha-Sarcoglycanopathies
Alpha-Sarcoglycanopathy
Duchenne Like Autosomal Recessive Muscular Dystrophy, Type 2
Duchenne-Like Autosomal Recessive Muscular Dystrophy, Type 2
LGMD2D
Limb Girdle Muscular Dystrophy, Type 2D
Limb-Girdle Muscular Dystrophy, Type 2D
Muscular Dystrophy Limb Girdle with Alpha Sarcoglycan Deficiency
Muscular Dystrophy Limb-Girdle with Alpha-Sarcoglycan Deficiency
Muscular Dystrophy, Limb-Girdle, Type 2D
Primary Adhalinopathies
Primary Adhalinopathy
Sarcoglycanopathy  
Tree Number:   C05.651.534.500.280.500
C08.618.923
C10.668.491.175.500.149.500
C14.280.238.812
C16.320.577.280.500
Definition English:   Deficiencies or mutations in the genes for the SARCOGLYCAN COMPLEX subunits. A variety of phenotypes are associated with these mutations including a subgroup of autosomal recessive limb girdle muscular dystrophies, cardiomyopathies, and respiratory deficiency. 
History Note English:   2011 
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:   53951 
Unique Identifier:   D058088 

Occurrence in VHL:
 
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