Search

© 2017 Umakhanova, Bardakov, Mavlikeev, Chernova, Magomedova, Akhmedova, Yakovlev, Dalgatov, Fedotov, Isaev and Deev.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.

The "Funding" section should be: This work was funded by Human Stem Cells Institute PJSC and Roman V. Deev. Theoretical part of this work was supported by Russian Scientific Foundation grant (14-15-00916). Ivan A. Yakovlev and Mikhail O. Mavlikeev were supported by the Russian Government Program of Competitive Growth of Kazan Federal University. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way.

The "Funding" section should be: This work was funded by Human Stem Cells Institute PJSC and Roman V. Deev. Theoretical part of this work was supported by Russian Scientific Foundation grant (14-15-00916). Ivan A. Yakovlev and Mikhail O. Mavlikeev were supported by the Russian Government Program of Competitive Growth of Kazan Federal University. The authors apologize for this error and state that this does not change the scientific conclusions of the article in any way.

© 2017 Umakhanova, Bardakov, Mavlikeev, Chernova, Magomedova, Akhmedova, Yakovlev, Dalgatov, Fedotov, Isaev and Deev.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.