A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency

Jennifer Martinez-Thompson, Steven A. Moore, Teerin Liewluck

Research output: Contribution to journalArticle

4 Scopus citations

Abstract

We describe a 70 year-old independently ambulatory man with a 10-year history of progressive axial and limb-girdle weakness, hyperCKemia, and a 5-year history of dyspnea requiring nocturnal ventilatory support due to a known c.1309C>T (p.Arg437Cys) variant and a novel in-frame deletion of exons 17–19 in the calpain-3 encoding gene (CAPN3). Pulmonary function tests revealed neuromuscular respiratory weakness. Biceps femoris biopsy showed chronic myopathic changes, numerous lobulated fibers, and reduced calpain-3 immunoreactivity. Muscle immunoblot showed markedly reduced calpain-3 expression. Respiratory insufficiency is uncommon in autosomal recessive calpainopathy, and generally develops in the advanced stages of the disease when individuals become wheelchair-dependent. Our patient broadens the phenotypic spectrum of recessive calpainopathy to include early respiratory insufficiency and also further expands its molecular spectrum.

Original languageEnglish (US)
Pages (from-to)229-231
Number of pages3
JournalJournal of Clinical Neuroscience
Volume53
DOIs
StatePublished - Jul 1 2018

Keywords

  • Axial myopathy
  • Calpain-3
  • CAPN3
  • Early respiratory insufficiency
  • LGMD2A
  • Limb-girdle muscular dystrophy

ASJC Scopus subject areas

  • Surgery
  • Neurology
  • Clinical Neurology
  • Physiology (medical)

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