MYOFIBRILLAR AND DISTAL MYOPATHIES: P.251Family with a new mutation in the DES gene of autosomal recessive transmission

Abstract

The desminopathies manifest with different types of characteristics, ages of presentation and even with types of inheritance. The reason for this presentation is a family with a description that presents a phenotype and genotype not described. A 14-year-old patient who visited the clinic due to myalgia, exercise intolerance and serum creatine kinase (CK) levels maintained at around 1000 IU/L; the middle sister has the same symptomatology and the older brother is healthy, the great-grandmothers are sister cousins. A non-invasive hyperCKemia protocol is applied, including DBS Pompe and MLPA DYS that are normal. MRI presents a pattern of local involvement (soleus, gastronemius and semitendinosus (grade 1) and paravertebral (grade 2). Muscle biopsy presents a dystrophic profile with vacuoles. In successive years it presents mild palpebral ptosis and minimal facial, scapular and axial weakness (4-). A NGS genetic study with 40 detects a variant in homozygosis not described (c.1372-1G>A) in the DES gene. The variant segregates with a recessive pattern in the family study. Myofibrillar protein markers are abnormal, highlighting Desmin accumulations. Currently the brothers have similar manifestations at 22 and 28 years of age. We describe a new pathological variant in the DES gene (c.1372-1G>A) with AR transmission causing a desminopathy that presents as paucisintomatic HCK and without cardiac alterations.