Dystroglycanopathy
cv_term_accession
KW-1215
canonical
uniprot_keyword
KW-1215
canonical
name
Dystroglycanopathy
uniprot
definition
Protein which, if defective, causes any of the muscular disorders caused by aberrant glycosylation of dystroglycan. These genetically heterogeneous diseases include a range of conditions with different degrees of severity. At the most severe end of the clinical spectrum, Walker-Warburg syndrome (WWS), muscle-eye-brain disease (MEB) and Fukuyama congenital muscular dystrophy (FCMD) are characterized by congenital muscular dystrophy and severe structural brain and eye abnormalities, which in WWS result in early infantile death. At the mildest end of the clinical spectrum, affected individuals present with limb girdle muscular dystrophy (LGMD), without brain and eye involvement.
uniprot
keywords
is_obsolete
false
uniprot
keywords
ontology_id
uniprot_keywords
uniprot
keywords