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 language | English (US) |
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Pages (from-to) | 229-231 |
Number of pages | 3 |
Journal | Journal of Clinical Neuroscience |
Volume | 53 |
DOIs | |
State | Published - Jul 2018 |
Keywords
- Axial myopathy
- CAPN3
- Calpain-3
- Early respiratory insufficiency
- LGMD2A
- Limb-girdle muscular dystrophy
ASJC Scopus subject areas
- Surgery
- Neurology
- Clinical Neurology
- Physiology (medical)