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1.
Clin Case Rep ; 11(12): e8334, 2023 Dec.
Article in English | MEDLINE | ID: mdl-38089486

ABSTRACT

Our case demonstrated that thrombotic complications such as coronary thrombosis and left ventricular clot could occur even in coronavirus disease 2019 (COVID-19) patients with nonspecific symptoms which indicates the mysterious face of COVID-19. This complex process highlights the necessity of screening patients for COVID-19 disease even with nonspecific cardiac symptoms.

2.
DNA Cell Biol ; 42(5): 248-253, 2023 May.
Article in English | MEDLINE | ID: mdl-36999906

ABSTRACT

Duchenne muscular dystrophy (DMD) is a severe progressive X-linked neuromuscular illness that affects movement through mutations in dystrophin gene. The mutation leads to insufficient, lack of, or dysfunction of dystrophin. The cause of DMD was determined in an Iranian family. Exome sequencing was carried out along with a complete physical examination of the family. In silico methods were applied to find the alteration in the protein structure. The homozygous variant in DMD gene (NM-004006.2) was defined as c.2732-2733delTT (p.Phe911CysfsX8) in exon 21. In addition, phylogenetic conservation study of the human dystrophin protein sequence revealed that phenylalanine 911 is one of the evolutionarily conserved amino acids. In conclusion, our study indicated a new deletion in the DMD gene in the affected family. This deletion with an X-linked inheritance pattern is new in Iran. These findings could facilitate genetic counseling for this family and other patients in the future.


Subject(s)
Muscular Dystrophy, Duchenne , Humans , Muscular Dystrophy, Duchenne/diagnosis , Muscular Dystrophy, Duchenne/genetics , Dystrophin/genetics , Iran , Exome Sequencing , Phylogeny , Mutation , Gene Deletion
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