Correlation of enzyme activity and clinical phenotype in POMT1-associated dystroglycanopathies.
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Abstract
Mutations in protein O-mannosyltransferases (POMTs) cause a heterogeneous group of muscular dystrophies with abnormal glycosylation of alpha-dystroglycan (dystroglycanopathies). The wide spectrum of clinical severities ranges from Walker-Warburg syndrome (WWS), associated with brain and eye abnormalities, to mild forms of limb girdle muscular dystrophy (LGMD).
Bibliographical data
| Original language | German |
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| Article number | 2 |
| ISSN | 0028-3878 |
| Publication status | Published - 2010 |
| pubmed | 20065251 |
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