Familial congenital fiber type disproportion (CFTD) with an autosomal recessive inheritance
作者:
Michael Jaffe,
Jehuda Shapira,
Zvi Borochowitz,
期刊:
Clinical Genetics
(WILEY Available online 1988)
卷期:
Volume 33,
issue 1
页码: 33-37
ISSN:0009-9163
年代: 1988
DOI:10.1111/j.1399-0004.1988.tb04261.x
出版商: Blackwell Publishing Ltd
关键词: autosomal recessive;congenital myopathy;muscle fiber type disproportion
数据来源: WILEY
摘要:
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 show
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