Novel compound heterozygous variants in the RPL3L gene causing dilated cardiomyopathy type-2D: a case report and literature review

• প্রধান লেখক: Qi Yang (লেখক), Qiang Zhang (লেখক), Zailong Qin (লেখক), Shujie Zhang (লেখক), Sheng Yi (লেখক), Shang Yi (লেখক), Qinle Zhang (লেখক), Jingsi Luo (লেখক)
• বিন্যাস: গ্রন্থ
• প্রকাশিত: BMC, 2023-06-01T00:00:00Z.
• বিষয়গুলি: article
• অনলাইন ব্যবহার করুন: Connect to this object online.

Abstract Background Dilated cardiomyopathy type-2D (CMD2D) is a rare heart disease causing a severe cardiomyopathy with neonatal onset and rapid progression to cardiac decompensation and death in untreated patients. CMD2D is an autosomal recessive disease resulting from variants in the RPL3L gene, w...