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| Mendeliome v1.4090 | B3GNT4 |
Sarah Milton gene: B3GNT4 was added gene: B3GNT4 was added to Mendeliome. Sources: Literature Mode of inheritance for gene: B3GNT4 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: B3GNT4 were set to 41444428 Phenotypes for gene: B3GNT4 were set to Hereditary neurological disease, MONDO:0100545, B3GNT4-related Review for gene: B3GNT4 was set to RED Added comment: PMID 41444428 reports 1 individual from 1 family with autosomal recessive homozygous missense variant c.478G>T (p.G160W) presenting with late‑onset progressive brain atrophy and muscular dystrophy. The patient had normal development until age 8, then progressive motor decline, spastic paresis, severe muscle wasting, elevated CK, loss of language, and died at 47 years of age from respiratory failure. A knock‑in mouse model reproduces the muscle but not CNS aspects of phenotype. Sources: Literature |
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