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Article

Congenital disorder of glycosylation due to DPM1 mutations presenting with dystroglycanopathy-type congenital muscular dystrophy.

Molecular genetics and metabolism - 1 Nov 2013

Yang Amy C, Ng Bobby G, Moore Steven A, Rush Jeffrey, Waechter Charles J, Raymond Kimiyo M, Willer Tobias, Campbell Kevin P, Freeze Hudson H, Mehta Lakshmi

Abstract excerpt

Congenital disorders of glycosylation (CDG) are rare genetic defects mainly in the post-translational modification of proteins via attachment of carbohydrate chains. We describe an infant with the phenotype of a congenital muscular dystrophy, with borderline microcephaly, hypotonia, camptodactyly, severe motor delay, and elevated creatine kinase. Muscle biopsy showed muscular dystrophy and reduced α-dystroglycan...

Topics

Biopsy
Congenital Disorders of Glycosylation
Diagnosis, Differential
Disease Progression
Enzyme Activation
Exons
Female
Gene Order
Humans
Infant

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Male

Mannosyltransferases

Muscle, Skeletal

Muscular Dystrophies

Mutation

Source

Open in PubMed Open full text

Identifiers

PMID: 23856421
DOI: 10.1016/j.ymgme.2013.06.016
PMCID: PMC3800268

Genes

DPM1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 31 Aug 2026.

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