Molecular Genetic Diagnosis of a Bethlem Myopathy Family with an Autosomal-DominantCOL6A1Mutation, as Evidenced by Exome Sequencing
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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...
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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متن کاملWhole exome sequencing revealed a novel dystrophin-related protein-2 (DRP2) deletion in an Iranian family with symptoms of polyneuropathy
Objective(s): Charcot-Marie Tooth disease (CMT) is one of the main inherited causes of motor and sensory neuropathies with variable expressivity and age-of onset. Although more than 70 genes have been identified for CMT, more studies are needed to discover other genes involved in CMT. Introduction of whole exome sequencing (WES) to capture all the exons may help to fin...
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ژورنال
عنوان ژورنال: Journal of Clinical Neurology
سال: 2015
ISSN: 1738-6586,2005-5013
DOI: 10.3988/jcn.2015.11.2.183