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 Citations (Scopus)

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

Fingerprint

Limb-Girdle Muscular Dystrophies
Calpain
Respiratory Insufficiency
Mutation
Wheelchairs
Respiratory Function Tests
Dyspnea
Exons
Extremities
Biopsy
Muscles
Genes
Limb-girdle muscular dystrophy type 2A

Keywords

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

ASJC Scopus subject areas

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

Cite this

A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency. / Martinez-Thompson, Jennifer; Moore, Steven A.; Liewluck, Teerin.

In: Journal of Clinical Neuroscience, Vol. 53, 01.07.2018, p. 229-231.

Research output: Contribution to journalArticle

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