Association between specific dystrophin gene mutations and myocardial fibrosis by cardiovascular magnetic resonance imaging in patients with Duchenne and Becker muscular dystrophy

Silva, Marly C; Rassi, Carlos Henrique Reis Esselin; Meira, Zilda Maria Alves; Giannetti, Juliana Gurgel; Vainzof, Mariz; Zatz, Mayana; Kalil, Roberto; Rochitte, Carlos Eduardo

doi:10.1186/1532-429x-16-s1-p325

Cited by 1 publication

(3 citation statements)

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“…Seven of them were conducted in the US 39–45 ; 2 in Brazil 46,47 ; and 1 each in Italy, 48 Japan, 49 and the Czech Republic. 50 The sample size ranged from 40 47 to 274. 44…”

Section: Resultsmentioning

confidence: 99%

“…42,43,50,51 Cirino et al reported mutations in the distal hotspot (Exons 43–55) to be associated with earlier dilated cardiomyopathy onset; however, mutations in exons 48–49 have variable results in the literature. 41,46 Mutations occurring in exons 45 or higher 20,47,49 and exons 56 and higher 40,49 are also considered cardioprotective. The risk of cardiomyopathy among individuals with single exonic frameshift deletions of 44 and 51 did not differ significantly from the risk associated with other mutations in other studies.…”

Section: Resultsmentioning

confidence: 99%

“…Twelve studies examined the association of cardiac features with patient DMD genotype. Seven of them were conducted in the US 39–45 ; 2 in Brazil 46,47 ; and 1 each in Italy, 48 Japan, 49 and the Czech Republic. 50 The sample size ranged from 40 47 to 274.…”

Section: Resultsmentioning

confidence: 99%

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DMD Gene and Dystrophinopathy Phenotypes Associated With Mutations: A Systematic Review for Clinicians

Andrews

Galindo

Thomas

et al. 2023

Journal of Clinical Neuromuscular Disease

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The diagnosis of Duchenne and Becker muscular dystrophy (DBMD) is made by genetic testing in approximately 95% of cases. Although specific mutations can be associated with skeletal muscle phenotype, pulmonary and cardiac comorbidities (leading causes of death in Duchenne) have not been associated with Duchenne muscular dystrophy mutation type or location and vary within families. Therefore, identifying predictors for phenotype severity beyond frameshift prediction is important clinically. We performed a systematic review assessing research related to genotype–phenotype correlations in DBMD. While there are severity differences across the spectrum and within mild and severe forms of DBMD, few protective or exacerbating mutations within the dystrophin gene were reported. Except for intellectual disability, clinical test results reporting genotypic information are insufficient for clinical prediction of severity and comorbidities and the predictive validity is too low to be useful when advising families. Including expanded information coupled with proposed severity predictions in clinical genetic reports for DBMD is critical for improving anticipatory guidance.

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“…Seven of them were conducted in the US 39–45 ; 2 in Brazil 46,47 ; and 1 each in Italy, 48 Japan, 49 and the Czech Republic. 50 The sample size ranged from 40 47 to 274. 44…”

Section: Resultsmentioning

confidence: 99%