Abstract
We recently described a distinct form of autosomal recessive LGMD with microcephaly, mild mental retardation and significantly reduced glycosyation of the α-dystroglycan in skeletal muscle. In a subgroup of these patients, this phenotype results from a common mutation in (A200P) in the O-mannosyltransferase (POMT1) gene. We clinically evaluated 15 patients, between ages 4 and 20, from 15 families with limb-girdle muscular dystrophy, mild microcephaly and mental retardation. The common finding in their muscle biopsies was severe reduction of the glycosylated part of α-dystroglycan in the immunohistochemistry.
Talk to us
Join us for a 30 min session where you can share your feedback and ask us any queries you have
Schedule a callDisclaimer: All third-party content on this website/platform is and will remain the property of their respective owners and is provided on "as is" basis without any warranties, express or implied. Use of third-party content does not indicate any affiliation, sponsorship with or endorsement by them. Any references to third-party content is to identify the corresponding services and shall be considered fair use under The CopyrightLaw.
