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X-linked and FSH dystrophies in one family
B R Lecky1, J M MacKenzie, A P Read
1Mersey Regional Department of Neurology, Walton Hospital, Liverpool, U.K.
Abstract:
A family is reported in which the father was affected by facioscapulohumeral muscular dystrophy FSHD. One son was affected by Duchenne muscular dystrophy (DMD). The second son died at the age of 3 yr of a severe primary muscle disease and it is suggested that this was the outcome of dual expression of the two conditions.
Insights
Facioscapulohumeral muscular dystrophy (FSHD) and Duchenne muscular dystrophy (DMD) presented in a family. A severe primary muscle disease in a child may have resulted from dual expression of both FSHD and DMD.
Area of Science:
- Genetics and Molecular Biology
- Neurology
- Pediatrics
Background:
- Facioscapulohumeral muscular dystrophy (FSHD) is a genetic disorder affecting muscles of the face, shoulders, and upper arms.
- Duchenne muscular dystrophy (DMD) is a severe genetic disorder causing progressive muscle degeneration and weakness.
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