Limb girdle muscular dystrophies, myofibrillar myopathies and distal myopathies

Gene: TRIM32

Green List (high evidence)

PMID: 17994549 Saccone et al., 2008
Proband 1 - 44yo Croatian woman with slowly progressive proximal muscle weakness and respiratory weakness (onset around 37 yrs), homozygous for TRIM32: c.1560del (p.Cys521fs) - rare in gnomAD v4.1.1, 4 hets reported
Proband 3 - man from Southern Italy with weakness and paresthesia (onset in 30s); muscle biopsy at age 59 yrs showed muscular dystrophy, diagnosed with LGMD; lost the ability to walk at age 64 yrs, with scapular winging and marked atrophy in the limbs; homozygous for TRIM32 c.1181G>A, p.Arg394His - rare in gnomAD, 36 hets reported
Proband 4 - 15yo boy with elevated CK and muscle cramps after exercise, but no muscle weakness; heterozygous for TRIM32: c.1762_1764del, p.Asp588del - 2 hets in gnomAD v4.1.1.

PMID: 30823891 Servián-Morilla et al., 2019
Report of three independent families of Spanish and Australian origin with a muscular dystrophy, with biallelic TRIM32 mutations:
Family A: affected members homozygous for TRIM32 c.1771G > A (p.V591 M) - onset in teenage years with foot drop, with no other symptoms until 3rd decade
Family B: affected members were comp het for TRIM32 c.650 A > G (p.N217S) and c.1701_1703del (p.F568del) - onset of weakness in 20s
Family C: homozygous TRIM32 c.115_116insT (p.C39LfsX17) mutation seen in affected members - onset of muscle weakness in 3rd / 4th decade of life
Segregation studies showed that available healthy family members were WT or heterozygous for TRIM32 variants.

PMID: 37217920 Guan et al., 2023
Proband II1 - Chinese woman, 30yo, presented with fatigue and muscle weakness during pregnancy - diagnosed with LGMD; onset around 24yrs; muscle biopsy showed myopathic features; compound het for TRIM32 variant c.1700A > G, p.H567R & 43 kb deletion (results in removal of whole TRIM32 as well as a portion of ASTN2 gene - not linked to disease in OMIM; Method: WGS + Sanger; parents healthy het

PMID: 40017290 Caputo & Schoser, 2024 - case follow up for PMID: 15786463
Case 1 - boy with muscle weakness and pain after exercise, first noted at 6yrs; the weakness was progressive, and he was wheelchair bound at age 38yrs, respiratory insufficiency was present at age 44yrs; homozygous for TRIM32 p.D487N variant
Case 2 - younger brother of Case 1, first presented at 32 years with exercise induced muscle pain; progressive muscle weakness led to wheelchair use, respiratory symptoms noted at age 52yrs; elevated CK; homozygous for TRIM32 p.D487N variant

TRIM32 is associated with Muscular dystrophy, limb-girdle, autosomal recessive 8, OMIM:254110 (also Definitive in ClinGen, 2024), and AR ?Bardet-Biedl syndrome 11, OMIM:615988 (Limited in ClinGen, 2024) - resources accessed 17th June 2026.

Created: 17 Jun 2026, 10:39 a.m. | Last Modified: 17 Jun 2026, 10:39 a.m.

Panel Version: 6.6

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Muscular dystrophy, limb-girdle, autosomal recessive 8, OMIM:254110; autosomal recessive limb-girdle muscular dystrophy type 2H, MONDO:0009683

Publications

• 17994549
• 30823891
• 37217920
• 40017290

Green List (high evidence)

Listed as associated with Limb Girdle Muscular Dystrophy by Gene Advisor (June 2016), Steve Abbs

Created: 27 Jul 2016, 8:27 a.m.