Congenital myopathyGene: MLIP
PMID: 34581780: 7 individuals with 6 families with truncating (one splice that also resulted in a frameshift variant) biallelic variants (used NM_1281746).
In 3 patients patients’ skeletal muscle, these variants were shown to cause reduction overall RNA expression levels of the predominant MLIP isoform.
Patients presented with a consistent phenotype characterized by mild muscle weakness, exercise-induced muscle pain, variable susceptibility to episodes of rhabdomyolysis, and persistent basal elevated serum creatine kinase levels.
Created: 4 Dec 2021, 8:03 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
MLIP-related myopathy with rhabdomyolysis
gene: MLIP was added gene: MLIP was added to Congenital myopathy. Sources: Literature Mode of inheritance for gene: MLIP was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: MLIP were set to 34581780 Phenotypes for gene: MLIP were set to MLIP-related myopathy with rhabdomyolysis Review for gene: MLIP was set to GREEN