ABSTRACT
The aim of the present study was to investigate the clinical, pathological and molecular genetic characteristics of a pedigree with myotonic dystrophy type 1 (DM1). A series of clinical data from a pedigree with DM1 were collected. Muscle biopsy revealed a typical nuclear ingression within numerous muscle fibers following hematoxylin and eosin staining. Genomic DNA was extracted from the venous blood of two patients and the triplet-primed polymerase chain reaction method was performed to amplify the dystrophia myotonic protein kinase (DMPK) gene. The amplified products were subjected to gene sequencing by capillary fluorescence electrophoresis, and a pathogenic mutation in the DMPK gene comprising >50 cytosine-thymine-guanine repeat sequences was found. DM1 includes multi-system damage, as well as skeletal muscle involvement, and can affect the central nervous system, endocrine glands, skin and heart. A skeletal muscle biopsy and genetic testing can confirm the diagnosis and clarify the severity of the disease. In addition, it is necessary to distinguish DM1 from DM2.
