Corrigendum: Twenty-Year Clinical Progression of Dysferlinopathy in Patients from Dagestan
نویسندگان
چکیده
[This corrects the article on p. 77 in vol. 8, PMID: 28337173.].
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 کاملThe Clinical Outcome Study for dysferlinopathy
OBJECTIVE To describe the baseline clinical and functional characteristics of an international cohort of 193 patients with dysferlinopathy. METHODS The Clinical Outcome Study for dysferlinopathy (COS) is an international multicenter study of this disease, evaluating patients with genetically confirmed dysferlinopathy over 3 years. We present a cross-sectional analysis of 193 patients derived ...
متن کاملTeenage exercise is associated with earlier symptom onset in dysferlinopathy: a retrospective cohort study.
IntroductIon Dysferlinopathy, an autosomal recessive muscular dystrophy caused by DYSF mutations, demonstrates a variable phenotype and progression rate, with symptom onset ranging from first to eighth decade and some patients requiring wheelchairs for mobility within 10 years, with others remaining minimally affected. Dysferlinopathy populations have previously been described as having an unus...
متن کاملInvited commentary. Clinical and magnetic resonance imaging features of 'diamond on quadriceps' sign in dysferlinopathy.
BACKGROUND There is very little by way of clinical examination that helps in the diagnosis of subtypes of limb-girdle muscular dystrophy (LGMD). A small observation led to this study on a clinical sign in a group of 31 patients with dysferlinopathy that included 13 with LGMD-2B and 18 with Miyoshi myopathy (MM). The patients were asked to stand with knees slightly bent so that the quadriceps mu...
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We investigated the clinical and molecular pattern of two young men affected by dysferlinopathy, that was first diagnosed as polymyositis. We show that their symptoms and clinical course although progressive were peculiar, as well as their biopsy suggesting a subsequent analysis of dysferlin protein by western blotting. Molecular analysis of dysferlin gene revealed pathogenetic mutations in bot...
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