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
Dagestan State Medical Academy , Makhachkala , Russia.
S.M. Kirov Military Medical Academy , Saint Petersburg , Russia.
Front Neurol. 2017 Mar 8;8:77. doi: 10.3389/fneur.2017.00077. eCollection 2017.
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 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.
迄今为止，已发现30多种因基因突变导致肢带型肌营养不良的基因。肌膜蛋白病是2B型肢带型肌营养不良的一种形式，在不同人群中的发病率为1:1300至1:200000。1996年，S. N. Illarioshkin博士描述了一个来自达吉斯坦博特利赫斯基区的家族，在一个阿瓦尔大家族的三代人中，有12名成员被诊断出患有2B型肢带型肌营养不良和宫下型肌病。2000年，在该家族的患病成员中检测到该基因中一个此前未被描述的突变（c.TG573/574AT；p.Val67Asp）。二十年后，在这项研究中，我们重新检查了5名已知患有肌膜蛋白病的患者以及7名新确诊的患病家庭成员。我们观察到先前确诊的家庭成员病情有所进展，并注意到该病存在明显的临床多态性。本文提供了一个典型的临床病例。
