AUTHOR=Umakhanova Zoya R. , Bardakov Sergei N. , Mavlikeev Mikhail O. , Chernova Olga N. , Magomedova Raisat M. , Akhmedova Patimat G. , Yakovlev Ivan A. , Dalgatov Gimat D. , Fedotov Valerii P. , Isaev Artur A. , Deev Roman V. TITLE=Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan JOURNAL=Frontiers in Neurology VOLUME=8 YEAR=2017 URL=https://www.frontiersin.org/journals/neurology/articles/10.3389/fneur.2017.00077 DOI=10.3389/fneur.2017.00077 ISSN=1664-2295 ABSTRACT=

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.