Curation MRUPAV PLIN4

PMID:36151849 reported one autosomal-dominant family and one sporadic adult-onset PLIN4-myopathy case with a heterozygous coding 99-bp PLIN4 repeat expansion and characteristic p62/perilipin-4-positive vacuolar pathology. PMID:32451610 reported a multigenerational 19p13.3-linked kindred with a PLIN4 40×99-bp expansion, absent from unaffected relatives/controls, and rimmed ubiquitin-positive autophagic vacuoles.

PMID:40693562 used WES coverage and RNA-seq review as part of the workup: increased PLIN4 exon coverage suggested an expanded allele, while RNA-seq showed normal PLIN4 expression and no splicing effect; ONT sequencing confirmed the expansion. PMID:39102614 is a clinical cohort/prognostic study and does not provide TR-specific computational pathogenicity evidence.

PMID:36151849 reported linkage in the PLIN4-related family to a 3.39 Mb 19p13.3 candidate interval (chr19:2635061–6033965) with maximum LOD 3.0408; PCR showed the expanded PLIN4 band in affected individuals and only the wild-type band in unaffected relatives.

PMID:40693562 showed increased PLIN4 at the sarcolemma/vacuoles in patient muscle and discussed that PLIN4 repeat expansion may alter lipid-droplet membrane-binding specificity, promoting abnormal sarcolemmal targeting and aggregation of perilipin-4.

PMID:35499779 showed patient muscle perilipin-4 co-localized with FK2, p62/SQSTM1, NBR1, and LC3B in vacuoles/subsarcolemma, consistent with aggrephagy-related aggregation. PMID:40693562 similarly showed PLIN4 co-localization with p62 and NBR1 at sarcolemma/vacuoles and detected a higher-molecular-weight PLIN4 band from the expanded allele by western blot.

PMID:40693562 reported patient muscle RNA-seq with normal PLIN4 mRNA expression and no observed PLIN4 splicing effect. Western blot revealed increased PLIN4 protein expression in patients compared with controls.

PMID:37145156 reported patient muscle biopsy findings in affected PLIN4 expansion carriers, including rimmed vacuoles and PLIN4, FK2, p62/SQSTM1, and NBR1 positivity/accumulation in muscle fibers; biopsies were abnormal even in some minimally symptomatic carriers.