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Congenital myopathy v7.46 PACSIN3 Achchuthan Shanmugasundram changed review comment from: PMID:38637313 (2024) reported three individuals from two unrelated families presenting with childhood-onset myopathy with hyperCKaemia. They were identified with either compound heterozygous or homozygous loss-of-function variants in PACSIN3 gene via exome sequencing and confirmed by Sanger sequencing (Family 1: c.270_277del, p.Leu91AlafsTer15 and c.609_610del, p(Lys203AsnfsTer4; Family 2: c.592G>T, p.Glu198Ter), which segregated with the disorder in the two families. Ultrastructural studies in muscle tissue derived from Individual 1 showed accumulation of membranous tubules, some of which were arranged in tubular aggregates.

PMID:29202928 (2017) reported evidence from Syndapin III knockout mice, which are viable, fertile, and developed without obvious impairments under normal conditions. But, their muscle cells showed a severe reduction in caveolar invaginations without loss of caveolin3 or cavin1 from the plasma membrane . Upon physical exercise, the knockout skeletal muscles exhibited pathological features including widened fibre calibre, detached nuclei, inflammation, and necrosis - phenocopying human myopathies associated with CAV3 mutations.; to: PMID:38637313 (2024) reported three individuals from two unrelated families presenting with childhood-onset myopathy with hyperCKaemia. They were identified with either compound heterozygous or homozygous loss-of-function variants in PACSIN3 gene via exome sequencing and confirmed by Sanger sequencing (Family 1: c.270_277del, p.Leu91AlafsTer15 and c.609_610del, p(Lys203AsnfsTer4; Family 2: c.592G>T, p.Glu198Ter), which segregated with the disorder in the two families. Ultrastructural studies in muscle tissue derived from Individual 1 showed accumulation of membranous tubules, some of which were arranged in tubular aggregates.

PMID:29202928 (2017) reported evidence from Syndapin III knockout mice, which are viable, fertile, and developed without obvious impairments under normal conditions. But, their muscle cells showed a severe reduction in caveolar invaginations without loss of caveolin3 or cavin1 from the plasma membrane . Upon physical exercise, the knockout skeletal muscles exhibited pathological features including widened fibre calibre, detached nuclei, inflammation, and necrosis - phenocopying human myopathies associated with CAV3 mutations.

This gene has been associated with relevant phenotypes in both OMIM (MIM # 621343, last accessed 09 June 2026) and Gene2Phenotype (with 'moderate' rating on the DD panel).
Congenital myopathy v3.26 CAV3 Arina Puzriakova Phenotypes for gene: CAV3 were changed from Cardiomyopathy, familial hypertrophic 192600; Creatine phosphokinase, elevated serum 123320; Long QT syndrome 9 611818; Muscular dystrophy, limb-girdle, type IC 607801; Myopathy, distal, Tateyama type 614321; Rippling muscle disease 606072 to Myopathy, distal, Tateyama type, OMIM:614321
Congenital myopathy CAV3 Anna Sarkozy reviewed CAV3
Congenital myopathy CAV3 Helen Brittain marked CAV3 as ready
Congenital myopathy CAV3 Helen Brittain reviewed CAV3