Key result
Among patients with facioscapulohumeral dystrophy and large 4q35 deletions, 68% had auditory impairment, and those with 10-11 kb fragments had high rates of mental retardation and epilepsy.
Observational (n=34)
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Hearing loss is a characteristic feature of facioscapulohumeral dystrophy patients with a large 4q35 deletion.
The clinical presentation of facioscapulohumeral dystrophy (FSHD) with unusual large 4q35 deletions was studied with attention to hearing loss.
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J Gordon Millichap (2008) conducted an observational in Facioscapulohumeral dystrophy (n=34). Large 4q35 deletions (10-13 kb fragment size) was evaluated on Auditory impairment. Among patients with facioscapulohumeral dystrophy and large 4q35 deletions, 68% had auditory impairment, and those with 10-11 kb fragments had high rates of mental retardation and epilepsy.
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