Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
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چکیده
منابع مشابه
Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
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 myopat...
متن کاملCorrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
[This corrects the article on p. 77 in vol. 8, PMID: 28337173.].
متن کاملDysferlinopathy: a clinical and histopathological study of 28 patients from India.
BACKGROUND Miyoshi myopathy (MM) and limb girdle muscular dystrophy (LGMD2B) are distinct clinical entities because different muscle groups are involved at the onset. We describe the clinical features in 28 patients with dysferlin deficiency confirmed by muscle immunohistochemistry (IHC). SETTINGS AND DESIGN A case series from a tertiary national referral center for neurological disorders. ...
متن کاملHeterogeneous Characteristics of Korean Patients with Dysferlinopathy
Dysferlinopathy is caused by mutations in the DYSF gene. To characterize the clinical spectrum, we investigated the characteristics of 31 Korean dysferlinopathy patients confirmed by immunohistochemistry. The mean age of symptom onset was 22.23 ± 7.34 yr. The serum creatine kinase (CK) was highly increased (4- to 101-fold above normal). The pathological findings of muscle specimens showed nonsp...
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ژورنال
عنوان ژورنال: Frontiers in Neurology
سال: 2017
ISSN: 1664-2295
DOI: 10.3389/fneur.2017.00077