Adult onset scapuloperoneal myopathy: diagnostic value of nerve morphometry and multiple muscle biopsies.
نویسندگان
چکیده
In the scapuloperoneal syndrome, differentiation between neurogenic and myopathic processes may be difficult despite electromyography and muscle biopsy. Extensive analysis, including morphometry, was conducted on multiple nerve and muscle biopsies from two adult onset, sporadic cases with the syndrome. These studies confirm a myopathic process and further define the entity of adult onset scapuloperoneal myopathy.
منابع مشابه
Adult onset scapuloperoneal myopathy.
Six cases are described of muscle weakness and wasting of scapuloperoneal distribution with an onset in early adult or middle life and a relatively benign progression. One case also showed mild facial weakness. Four cases were probably sporadic but in two, a mother and daughter, autosomal dominant inheritance was likely. Electromyographic studies demonstrated myopathic features in all, and this...
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In 1965, an adult-onset, autosomal dominant disorder with a peculiar scapuloperoneal distribution of weakness and atrophy was described in a large, multi-generation kindred and named 'scapuloperoneal syndrome type Kaeser' (OMIM #181400). By genetic analysis of the original kindred, we discovered a heterozygous missense mutation of the desmin gene (R350P) cosegregating with the disorder. Moreove...
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IMPORTANCE New genomic strategies can now be applied to identify a diagnosis in patients and families with previously undiagnosed rare genetic conditions. The large family evaluated in the present study was described in 1966 and now expands the phenotype of a known neuromuscular gene. OBJECTIVE To determine the genetic cause of a slowly progressive, autosomal dominant, scapuloperoneal neuromu...
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عنوان ژورنال:
- Journal of neurology, neurosurgery, and psychiatry
دوره 51 6 شماره
صفحات -
تاریخ انتشار 1988