Duchenne muscular dystrophy in a female with x-autosome translocation

نویسندگان

چکیده

Duchenne’s muscular dystrophy is the most common hereditary neuromuscular disease, which affects all races. Its classical characteristic clinical features being progressive weakness, intellectual impairment and hypertrophy of calves with proliferation connective tissue fibrosis in muscles. As disease inherited as an X-linked recessive trait, thus females not manifesting acting carriers only, second X chromosome prevents manifestation disease. We report a case Duchenne 10 year old female no deficit family history similar type dystrophy.

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ژورنال

عنوان ژورنال: International Journal of Contemporary Pediatrics

سال: 2021

ISSN: ['2349-3283', '2349-3291']

DOI: https://doi.org/10.18203/2349-3291.ijcp20211094