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Yonsei Med J. 2016 Jan;57(1):173-9. doi: 10.3349/ymj.2016.57.1.173.

Clinical and Pathological Heterogeneity of Korean Patients with CAPN3 Mutations.

Author information

1
Department of Neurology, Mokdong Hospital, Ewha Womans University School of Medicine, Seoul, Korea.
2
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea.
3
Department of Chemistry, Yonsei University, Seoul, Korea.
4
Department and Research Institute of Rehabilitation Medicine, Brain Korea 21 PLUS Project for Medical Sciences, Yonsei University College of Medicine, Seoul, Korea.
5
Department of Pharmacology, Pharmacogenomic Research Center for Membrane Transporters, Brain Korea 21 PLUS Project for Medical Sciences, Severance Biomedical Science Institute, Yonsei University College of Medicine, Seoul, Korea.
6
Department of Oral Biology, Yonsei University College of Dentistry, Seoul, Korea. jihyni@yuhs.ac.
7
Department of Neurology, Yonsei University College of Medicine, Seoul, Korea. ycchoi@yuhs.ac.

Abstract

PURPOSE:

This study was designed to investigate the characteristics of Korean patients with calpainopathy.

MATERIALS AND METHODS:

Thirteen patients from ten unrelated families were diagnosed with calpainopathy via direct or targeted sequencing of the CAPN3 gene. Clinical, mutational, and pathological spectra were then analyzed.

RESULTS:

Nine different mutations, including four novel mutations (NM_000070: c.1524+1G>T, c.1789_1790inA, c.2184+1G>T, and c.2384C>T) were identified. The median age at symptom onset was 22 (interquartile range: 15-28). Common clinical findings were joint contracture in nine patients, winged scapula in four, and lordosis in one. However, we also found highly variable clinical features including early onset joint contractures, asymptomatic hyperCKemia, and heterogeneous clinical severity in three members of the same family. Four of nine muscle specimens revealed lobulated fibers, but three showed normal skeletal muscle histology.

CONCLUSION:

We identified four novel CAPN3 mutations and demonstrated clinical and pathological heterogeneity in Korean patients with calpainopathy.

KEYWORDS:

CAPN3; Limb girdle muscular dystrophy 2A; calpainopathy; genetic testing; lobulated fiber

PMID:
26632398
PMCID:
PMC4696950
DOI:
10.3349/ymj.2016.57.1.173
[Indexed for MEDLINE]
Free PMC Article

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