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

Jennifer M Martinez-Thompson; Steven A Moore; Teerin Liewluck

doi:10.1016/j.jocn.2018.04.025

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

Journal article

Open access

Peer reviewed

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

Jennifer M Martinez-Thompson, Steven A Moore and Teerin Liewluck

Journal of clinical neuroscience, Vol.53, pp.229-231

07/2018

DOI: 10.1016/j.jocn.2018.04.025

PMCID: PMC6792001

PMID: 29685414

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https://www.ncbi.nlm.nih.gov/pmc/articles/6792001View

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Abstract

•A new likely pathogenic CAPN3 deletion of exons 17–19 was identified in our case.•Deletion pathogenicity is supported by reduced calpain-3 immunoblot expression.•LGMD2A can be associated with early respiratory dysfunction. 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.

Early respiratory insufficiency

Axial myopathy

Calpain-3

CAPN3

Limb-girdle muscular dystrophy

LGMD2A

Details

Title: Subtitle: A novel CAPN3 mutation in late-onset limb-girdle muscular dystrophy with early respiratory insufficiency
Creators: Jennifer M Martinez-Thompson - Department of Neurology, Mayo Clinic, Rochester, MN, United States
Steven A Moore - Department of Pathology, University of Iowa, Iowa City, IA, United States
Teerin Liewluck - Department of Neurology, Mayo Clinic, Rochester, MN, United States
Resource Type: Journal article
Publication Details: Journal of clinical neuroscience, Vol.53, pp.229-231
DOI: 10.1016/j.jocn.2018.04.025
PMID: 29685414
PMCID: PMC6792001
NLM abbreviation: J Clin Neurosci
ISSN: 0967-5868
eISSN: 1532-2653
Publisher: Elsevier Ltd
Grant note: name: the Iowa Wellstone Muscular Dystrophy Cooperative Research Center, award: NS053672
Language: English
Date published: 07/2018
Academic Unit: Pathology
Record Identifier: 9984047625902771

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