Article
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability.
Journal of medical genetics - 1 Apr 2014
von Renesse Anja, Petkova Mina V, Lützkendorf Susanne, Heinemeyer Jan, Gill Esther, Hübner Christoph, von Moers Arpad, Stenzel Werner, Schuelke Markus
Abstract excerpt
BACKGROUND: Congenital muscular dystrophies (CMD) with hypoglycosylation of α-dystroglycan are clinically and genetically heterogeneous disorders that are often associated with brain malformations and eye defects. Presently, 16 proteins are known whose dysfunction impedes glycosylation of α-dystroglycan and leads to secondary dystroglycanopathy. OBJECTIVE: To identify the cause of CMD with secondary merosin...
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