Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis.

doi:10.1016/0960-8966(92)90044-7

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Article

Early onset autosomal dominant progressive muscular dystrophy presenting in childhood as a Becker phenotype--the importance of dystrophin and molecular genetic analysis.

Neuromuscular disorders : NMD - 1 Jan 1992

Miller G, Beggs A H, Towfighi J

Abstract excerpt

We present two cases of autosomal dominant limb girdle muscular dystrophy in a father and son. Both presented in childhood with a classical Becker muscular dystrophy phenotype. The father had initially been informed that he would not have affected children. After the diagnosis of muscular dystrop...

Topics

Child
Child, Preschool
Diagnosis, Differential
Dystrophin
Genes, Dominant
Humans
Male
Muscular Dystrophies
Phenotype
Time Factors

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