Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Book

Dystrophinopathies

Andres Morales  1 , Kunal Mahajan  2
In: StatPearls [Internet]. Treasure Island (FL): StatPearls Publishing; 2025 Jan.
.
Affiliations
Free Books & Documents
Book

Dystrophinopathies

Andres Morales et al.
Free Books & Documents

Excerpt

Dystropinopathies are a group of X-linked muscle disorders, with their most recognized pathology being Duchenne muscular dystrophy (DMD), followed by Becker muscular dystrophy (BMD) and the relatively new phenotype DMD associated dilated cardiomyopathy (DCM). The most severe phenotype, DMD, usually presents in childhood with a series of developmental motor problems, while BMD, it is a late-onset entity. All pathologies are inherited in an X-linked manner, affecting mainly males, but females can also present with a related condition (DCM).

PubMed Disclaimer

Conflict of interest statement

Disclosure: Andres Morales declares no relevant financial relationships with ineligible companies.

Disclosure: Kunal Mahajan declares no relevant financial relationships with ineligible companies.

References

    1. Takeshima Y, Yagi M, Okizuka Y, Awano H, Zhang Z, Yamauchi Y, Nishio H, Matsuo M. Mutation spectrum of the dystrophin gene in 442 Duchenne/Becker muscular dystrophy cases from one Japanese referral center. J Hum Genet. 2010 Jun;55(6):379-88. - PubMed
    1. Romitti et al. Prevalence of Duchenne and Becker muscular dystrophies in the United States. Pediatrics. 2015;135(3):513-521. Pediatrics. 2015 May;135(5):945. - PMC - PubMed
    1. D'Amario D, Gowran A, Canonico F, Castiglioni E, Rovina D, Santoro R, Spinelli P, Adorisio R, Amodeo A, Perrucci GL, Borovac JA, Pompilio G, Crea F. Dystrophin Cardiomyopathies: Clinical Management, Molecular Pathogenesis and Evolution towards Precision Medicine. J Clin Med. 2018 Sep 19;7(9) - PMC - PubMed
    1. Hoffman EP, Fischbeck KH, Brown RH, Johnson M, Medori R, Loike JD, Harris JB, Waterston R, Brooke M, Specht L. Characterization of dystrophin in muscle-biopsy specimens from patients with Duchenne's or Becker's muscular dystrophy. N Engl J Med. 1988 May 26;318(21):1363-8. - PubMed
    1. Muntoni F, Torelli S, Ferlini A. Dystrophin and mutations: one gene, several proteins, multiple phenotypes. Lancet Neurol. 2003 Dec;2(12):731-40. - PubMed

Publication types

LinkOut - more resources