| Autor: |
Umakhanova ZR; Dagestan State Medical Academy , Makhachkala , Russia., Bardakov SN; S.M. Kirov Military Medical Academy , Saint Petersburg , Russia., Mavlikeev MO; Kazan Federal University , Kazan , Russia., Chernova ON; Kazan Federal University , Kazan , Russia., Magomedova RM; Dagestan State Medical Academy , Makhachkala , Russia., Akhmedova PG; Dagestan State Medical Academy , Makhachkala , Russia., Yakovlev IA; Kazan Federal University, Kazan, Russia; Human Stem Cells Institute, Moscow, Russia; Ryazan State Medical University, Ryazan, Russia., Dalgatov GD; Human Stem Cells Institute , Moscow , Russia., Fedotov VP; Voronezh Regional Clinical Hospital No. 1 , Voronezh , Russia., Isaev AA; Human Stem Cells Institute , Moscow , Russia., Deev RV; Human Stem Cells Institute, Moscow, Russia; Ryazan State Medical University, Ryazan, Russia. |
| Abstrakt: |
To date, over 30 genes with mutations causing limb-girdle muscle dystrophy have been described. Dysferlinopathies are a form of limb-girdle muscle dystrophy type 2B with an incidence ranging from 1:1,300 to 1:200,000 in different populations. In 1996, Dr. S. N. Illarioshkin described a family from the Botlikhsky district of Dagestan, where limb-girdle muscle dystrophy type 2B and Miyoshi myopathy were diagnosed in 12 members from three generations of a large Avar family. In 2000, a previously undescribed mutation in the DYSF gene (c.TG573/574AT; p. Val67Asp) was detected in the affected members of this family. Twenty years later, in this work, we re-examine five known and seven newly affected family members previously diagnosed with dysferlinopathy. We observed disease progression in family members who were previously diagnosed and noted obvious clinical polymorphism of the disease. A typical clinical case is provided. |
