To evaluate specific characteristics of phenotype, immune status, molecular and genetic as well as morphological characteristics of adult patients with limb-girdle muscular dystrophy R2 in various regions of the Russian Federation.
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Сlinical status of patients with dysferlinopathy (MMT score)
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy ( North Star Assessment for dysferlinopathy)
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (Hand Held Dynamometry).
Timeframe: Through study completion at 24 months
Сlinical status of patients with dysferlinopathy (6-minute walk test)
Timeframe: Through study completion at 24 months
Clinical blood test (level of hemoglobin)
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of hematocrit
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of RBC
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of WBC
Timeframe: Through study completion at 24 months.
Clinical blood test. Levels of ESR
Timeframe: Through study completion at 24 months.
Clinical blood test. Level of platelets
Timeframe: Through study completion at 24 months.
Biochemical blood test.
Timeframe: Through study completion at 24 months
Biochemical blood test. Level of sodium
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of calcium
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of creatinine
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of glucose
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of uric acid
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of urea
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of ALT
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of AST
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of total protein
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of CPK
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of triglycerides
Timeframe: Through study completion at 24 months.
Biochemical blood test. Level of CRP
Timeframe: Through study completion at 24 months.
Blood cytokine levels in subjects with dysferlinopathy and healthy volunteers.
Timeframe: Through study completion at 24 months
Autoantibodies in patients with dysferlinopathy.
Timeframe: Through study completion at 24 months
Muscle MRI in patients with dysferlinopathy.
Timeframe: Through study completion at 24 months.
Subpopulation compositions of T-lymphocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of B-lymphocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (NBT test)
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes in subjects with dysferlinopathy (lysosomal-cation test).
Timeframe: Through study completion at 24 months
Subpopulation compositions of phagocytic activity of leukocytes (a phagocytic index) in subjects with dysferlinopathy.
Timeframe: Through study completion at 24 months
Gait pattern and balance characteristics in patients with limb-girdle muscular dystrophy R2.
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LV mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). Myocardium mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). RV
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of LV mass
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Echocardiography). LA
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by Electrocardiography). Outcome 13
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent). Volumetric evaluation of EF
Timeframe: Through study completion at 24 months.
Cardiac function (assessed by MRI scan with a gadolinium-based contrast agent).
Timeframe: Through study completion at 24 months.
Morphological muscle study
Timeframe: Through study completion at 24 months.