Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene.

doi:10.1212/wnl.44.3_part_1.541

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Article

Unusual expression and very mild course of Xp21 muscular dystrophy (Becker type) in a 60-year-old man with 26 percent deletion of the dystrophin gene.

Neurology - 1 Mar 1994

Palmucci L, Doriguzzi C, Mongini T, Restagno G, Chiadò-Piat L, Maniscalco M

Abstract excerpt

A 54-year-old farmer with a negative family history had had mild proximal weakness for the previous 4 years. Clinical examination showed marked scoliosis, barrel-shaped chest, diffuse hypotrophy, and mild proximal weakness. Creatine kinase was 938 U/l; electrocardiography and echocardiography wer...

Topics

Dystrophin
Gene Deletion
Humans
Male
Middle Aged
Muscles
Muscular Dystrophies
Phenotype

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