Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance.
作者信息
Jaffe M, Shapira J, Borochowitz Z
机构信息
Department of Pediatrics, Haifa Medical Center, Technion-Faculty of Medicine, Israel.
出版信息
Clin Genet. 1988 Jan;33(1):33-7. doi: 10.1111/j.1399-0004.1988.tb04261.x.
Abstract
Two siblings, born to healthy non-consanguineous parents, were found to be affected with congenital progressive severe myopathy. Muscle biopsy revealed fiber type disproportion with no other histological abnormalities, thus confirming the diagnosis of congenital fiber type disproportion and suggesting an autosomal recessive mode of inheritance. This, to our knowledge, is the first reported family in which a strict histological diagnosis of congenital fiber type disproportion has been made and an autosomal recessive mode of inheritance shown.
摘要
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Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.原肌球蛋白 3（TPM3）突变很常见，与先天性纤维类型比例失调中 1 型肌纤维萎缩有关。
Hum Mutat. 2010 Feb;31(2):176-83. doi: 10.1002/humu.21157.
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