Novel TRIM32 mutation in sarcotubular myopathy

Chiara Panicucci, Monica Traverso, Serena Baratto, Chiara Romeo, Michele Iacomino, Chiara Gemelli, Alberto Tagliafico, Paolo Broda, Federico Zara, Claudio Bruno, Carlo Minetti, Chiara Fiorillo

Research output: Contribution to journalArticle

Abstract

Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn) localised in the c-terminus NHL domain. Mutations of this domain have been also associated to Sarcotubular Myopathy (STM), a form of distal myopathy with peculiar features in muscle biopsy, now considered in the spectrum of LGMD2H. Muscle biopsy revealed severe abnormalities of the myofibrillar network with core like areas, lobulated fibres, whorled fibres and multiple vacuoles. Desmin and Myotilin stainings also pointed to accumulation as in Myofibrillar Myopathy. This report further confirms that STM and LGMD2H represent the same disorder and suggests to consider TRIM32 mutations in the genetic diagnosis of Sarcotubular Myopathy and Myofibrillar Myopathy.

Original languageEnglish
Pages (from-to)8-12
Number of pages5
JournalActa myologica : myopathies and cardiomyopathies : official journal of the Mediterranean Society of Myology
Volume38
Issue number1
Publication statusPublished - Jun 1 2019

Fingerprint

Mutation
Muscles
Distal Myopathies
Biopsy
Ubiquitin-Protein Ligases
Desmin
Muscular Diseases
Vacuoles
Limb-girdle muscular dystrophy type 2H
Tripartite Motif Proteins
Staining and Labeling
Genes
Proteins
Myofibrillar Myopathy

Keywords

  • desmin
  • LGMD2H
  • myotilin
  • sarcotubular myopathy
  • spheroids bodies
  • TRIM32

ASJC Scopus subject areas

  • Cardiology and Cardiovascular Medicine

Cite this

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abstract = "Tripartite motif-containing protein 32 (TRIM32) is a member of the TRIM ubiquitin E3 ligases which ubiquitinates different substrates in muscle including sarcomeric proteins. Mutations in TRIM32 are associated with Limb-Girdle Muscular Dystrophy 2H. In a 66 old woman with disto-proximal myopathy, we identified a novel homozygous mutation of TRIM32 gene c.1781G > A (p. Ser594Asn) localised in the c-terminus NHL domain. Mutations of this domain have been also associated to Sarcotubular Myopathy (STM), a form of distal myopathy with peculiar features in muscle biopsy, now considered in the spectrum of LGMD2H. Muscle biopsy revealed severe abnormalities of the myofibrillar network with core like areas, lobulated fibres, whorled fibres and multiple vacuoles. Desmin and Myotilin stainings also pointed to accumulation as in Myofibrillar Myopathy. This report further confirms that STM and LGMD2H represent the same disorder and suggests to consider TRIM32 mutations in the genetic diagnosis of Sarcotubular Myopathy and Myofibrillar Myopathy.",
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AU - Panicucci, Chiara

AU - Traverso, Monica

AU - Baratto, Serena

AU - Romeo, Chiara

AU - Iacomino, Michele

AU - Gemelli, Chiara

AU - Tagliafico, Alberto

AU - Broda, Paolo

AU - Zara, Federico

AU - Bruno, Claudio

AU - Minetti, Carlo

AU - Fiorillo, Chiara

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