Very low penetrance in 85 Japanese families with facioscapulohumeral muscular dystrophy 1A

Abstract excerpt

Facioscapulohumeral muscular dystrophy (FSHD) is the third most common form of muscular disorder with an autosomal dominant trait, and its frequency is about one in 20 000. It is characterised by weakness and atrophy of the facial, shoulder girdle, and upper limb muscles. The pelvic girdle and lower limbs subsequently also become involved, and, eventually, 20% of patients have to use wheelchairs by the age of 40...

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