Congenital fiber type disproportion caused by TPM3 mutation: A report of two atypical cases.

Cristiane Araújo Martins Moreno,Eduardo de Paula Estephan,Alan Fappi,Soledad Monges,Fabiana Lubieniecki,Osório Lopes Abath Neto,Umbertina Conti Reed,Sandra Donkervoort,Matthew B Harms,Carsten Bonnemann,Edmar Zanoteli

Neuromuscular Disorders（2020）

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摘要

•Homozygous mutations on TPM3 gene can lead to mild presentations of congenital fiber type disproportion myopathy.•Dropped-head can be present in TPM3-related myopathies.•Aminoacid-polarity changes nearby actin-binding sites are predicted to cause muscle dysfunction.

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关键词

Congenital myopathy,CFTD,TPM3,Recessive inheritance,Dropped head

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