In:
PLOS ONE, Public Library of Science (PLoS), Vol. 16, No. 7 ( 2021-7-23), p. e0255011-
Abstract:
Dystrophinopathy is a group of inherited phenotypes arising from pathogenic variants in DMD . We evaluated the clinical and genetic characteristics of Korean patients with genetically confirmed dystrophinopathy. We retrospectively reviewed medical records (January 2004-September 2020) from the myopathy database maintained at the study hospital and found 227 patients from 218 unrelated families with dystrophinopathy. Clinical phenotypes included 120 (53%) Duchenne muscular dystrophy (DMD) cases, 20 (9%) intermediate phenotype muscular dystrophy (IMD) cases, 65 (29%) Becker muscular dystrophy (BMD) cases, 18 (8%) undetermined phenotypes, and 4 (2%) symptomatic carriers. The median ages at symptom onset and diagnosis were 5.0 years (interquartile range [IQR] : 3.8–8.0) and 12.0 years (IQR: 7.0–21.0), respectively. Total manual muscle test (MMT) scores decreased annually in patients with DMD, IMD, and BMD. Overall, when age increased by 1 year, total MMT scores decreased on average by -1.978, -1.681, and -1.303 in patients with DMD (p 〈 0.001), IMD (p 〈 0.001), and BMD (p 〈 0.001), respectively. Exonic deletion and duplication were reported in 147 (67%) and 31 (14%) of the 218 unrelated probands, respectively. A total of 37 different small sequence variants were found in 40 (18%) of the 218 probands. The reading frame rule was applicable to 142 (94%) of the 151 probands. The present results highlight the long-term natural history and genetic spectrum of dystrophinopathy in a large-scale Korean cohort.
Type of Medium:
Online Resource
ISSN:
1932-6203
DOI:
10.1371/journal.pone.0255011
DOI:
10.1371/journal.pone.0255011.g001
DOI:
10.1371/journal.pone.0255011.g002
DOI:
10.1371/journal.pone.0255011.g003
DOI:
10.1371/journal.pone.0255011.g004
DOI:
10.1371/journal.pone.0255011.t001
DOI:
10.1371/journal.pone.0255011.t002
DOI:
10.1371/journal.pone.0255011.s001
DOI:
10.1371/journal.pone.0255011.s002
DOI:
10.1371/journal.pone.0255011.r001
DOI:
10.1371/journal.pone.0255011.r002
DOI:
10.1371/journal.pone.0255011.r003
DOI:
10.1371/journal.pone.0255011.r004
Language:
English
Publisher:
Public Library of Science (PLoS)
Publication Date:
2021
detail.hit.zdb_id:
2267670-3
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