COL6A1 mutation leading to Bethlem myopathy with recurrent hematuria: a case report
نویسندگان
چکیده
منابع مشابه
Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-Dominant COL6A1 Mutation, as Evidenced by Exome Sequencing
BACKGROUND We describe herein the application of whole exome sequencing (WES) for the molecular genetic diagnosis of a large Korean family with dominantly inherited myopathy. CASE REPORT The affected individuals presented with slowly progressive proximal weakness and ankle contracture. They were initially diagnosed with limb-girdle muscular dystrophy (LGMD) based on clinical and pathologic fe...
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Recurrent pregnancy loss is usually defined as the loss of two or more consecutive pregnancies before 20 weeks of gestation, which occurs in approximately 5% of reproductive-aged women. It has been suggested that women with thrombophilia have an increased risk of pregnancy loss and other adverse pregnancy outcomes. Thrombophilia is an important predisposition to blood clot formation and is cons...
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Background: Cow milk allergy is one of the most common food allergies in young children causing a wide range of clinical syndromes due to immunologic responses to cow milk proteins. In this report we introduce an infant with dietary protein proctitis due to a cow’s milk referred with hematuria and bloody stool. Case Presentation: Our case was a 10- month old m...
متن کاملGenetic localization of Bethlem myopathy.
Bethlem myopathy is a rare autosomal dominant myopathy characterized by slowly progressive limb-girdle muscular atrophy and weakness, and contractures of multiple joints. To identify the genetic localization we used highly polymorphic microsatellite markers in a genome-wide search in six Dutch families. After excluding genetic linkage with 52 markers distributed evenly over the autosomes, signi...
متن کاملBethlem myopathy in a Taiwanese family.
We report three cases of Bethlem myopathy from three consecutive generations of a Taiwanese family, including one woman aged 70, one man aged 40, and a boy aged 8. The clinical features of the patients included autosomal dominant inheritance, childhood or adolescent onset, mainly proximal and extensor involvement, early diffuse joint contractures, and absence of cardiac involvement. These featu...
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ژورنال
عنوان ژورنال: BMC Neurology
سال: 2019
ISSN: 1471-2377
DOI: 10.1186/s12883-019-1263-0