Six cases of sporadic distal myopathy were studied. The characteristic features in these cases were sporadic occurrence affecting both sexes, onset in puberty to early adult life, slowly progressive weakness involving first distal parts of the lower extremities, slight elevation of CPK and typical myopathic change in association with prominent rimmed vacuoles in the biopsied muscles. Our cases have the same clinico-pathological features as two sporadic cases reported by Mizusawa, et al. in 1980 and three familial cases reported by Nonaka, et al. in 1981. As five patients of our series have parental consanguinity. This type is probably transmitted by autosomal recessive trait. The differences between this type and other types are discussed.
|出版ステータス||出版済み - 1982|
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