Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis

Ron Dabby, Menachem Sadeh, David Hilton-Jones, Paul Plotz, Peter Hackman, Anna Vihola, Bjarne Udd, Esther Leshinsky-Silver

Research output: Contribution to journalArticlepeer-review

5 Scopus citations


Rarely, inflammation can be present in genetic myopathies, such as dysferlinopathies, facioscapulohumeral muscular dystrophy and GNE-myopathy (hereditary inclusion body myopathy). This may lead to erroneous initial diagnosis and unnecessary therapy which bear serious side effects. We report on an unusual case of mutations in the TTN gene presenting with inflammatory infiltrates in the muscle biopsy. Only after intensive immune-modulating therapies failed, a genetic myopathy was considered. Exome sequencing and search for mutated muscle protein-encoding genes disclosed compound heterozygous mutations in TTN: K26320T and A6135G. The parents carry one each of the mutations. Titinopathy could be considered also in patients presenting with inflammatory infiltrates resistant to therapy.

Original languageEnglish (US)
Pages (from-to)120-123
Number of pages4
JournalJournal of the Neurological Sciences
Issue number1-2
StatePublished - Apr 15 2015
Externally publishedYes


  • Keywords Titin LGMD2J Muscular dystrophy Inflammatory myopathy

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)


Dive into the research topics of 'Adult onset limb-girdle muscular dystrophy - A recessive titinopathy masquerading as myositis'. Together they form a unique fingerprint.

Cite this