A homozygous variant in the beta-1,3-N-acetylglucosaminyltransferase 4 gene causes progressive brain atrophy and muscular dystrophy.

Protein glycosylation defects can present with early-onset brain malformations and muscular dystrophy or milder, late-onset muscular dystrophy. Here, we report a new glycosylation defect with an atypical phenotype of late-onset, progressive, severe b…

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