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单词 Congenital fiber type disproportion
释义

Congenital fiber type disproportion

英语百科

Congenital fiber type disproportion

Congenital fiber type disproportion (CFTD) is an inherited form of myopathy with small type 1 muscle fibers that may occur in a number of neurological disorders. It has a relatively good outcome and follows a stable course. While the exact genetics is unclear there is an association with TPM3, ACTA1 and SEPN1 gene mutations. It is a rare condition.

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更新时间:2025/6/21 14:43:43