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Article

Expanding the Phenotype of B3GALNT2-Related Disorders.

Genes - 14 Apr 2022

D'haenens Erika, Vergult Sarah, Menten Björn, Dheedene Annelies, Kooy R Frank, Callewaert Bert

Abstract excerpt

Dystroglycanopathies are a group of congenital muscular dystrophies (CMDs) that include a broad phenotypic spectrum ranging from late-onset limb-girdle muscular dystrophy to severe muscle-eye-brain disease, Walker-Warburg syndrome, and Fukuyama congenital muscular dystrophy. In addition to clinical heterogeneity, CMDs are characterized by genetic heterogeneity. To date, 18 genes have been associated with CMDs....

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Source

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Identifiers

PMID: 35456500
DOI: 10.3390/genes13040694
PMCID: PMC9024883

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