Causative variants linked with limb girdle muscular dystrophy in an Iranian population: 6 novel variants.

Hamidreza Mianesaz,Safoura Ghalamkari,Mansoor Salehi,Mahdiyeh Behnam,Majid Hosseinzadeh,Keivan Basiri,Majid Ghasemi,Maryam Sedghi,Behnaz Ansari

Molecular genetics & genomic medicine（2023）

引用 0|浏览9

暂无评分

摘要

In a comprehensive investigation of previous clinical records, 6 variations were determined as novel, including c.1354-2 A > T and c.3169_3172dupCGGC in DYSF, c.568 G > T in SGCD, c.7243 C > T, c.8662_8663 insT and c. 4397G > C in LAMA2. Some of the detected variants were located in functional domains and/or near to the post-translational modification sites, altering or removing highly conserved regions of amino acid sequence.

查看译文

关键词

LGMD,calpain,dysferlin,laminin,limb-girdle muscular dystrophy,muscular disorders,sarcoglycans,whole exome sequencing

AI 理解论文

溯源树

样例

生成溯源树，研究论文发展脉络

Chat Paper

正在生成论文摘要