Bethlem myopathy: An autosomal dominant myopathy with flexion contractures, keloids, and follicular hyperkeratosis
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چکیده
منابع مشابه
Bethlem myopathy: a slowly progressive congenital muscular dystrophy with contractures.
Bethlem myopathy is an early-onset benign autosomal dominant myopathy with contractures caused by mutations in collagen type VI genes. It has been reported that onset occurs in early childhood. We investigated the natural course of Bethlem myopathy in five previously published kindreds and two novel pedigrees, with particular attention to the mode of onset in 23 children and the progression of ...
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 کاملMolecular 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 کاملMuscle MRI in Bethlem myopathy.
To cite: Morrow JM, Pitceathly RDS, Quinlivan RM, et al. BMJ Case Rep Published online: [please include Day Month Year] doi:10.1136/bcr-2013008596 DESCRIPTION A 44-year-old man presented with progressive limb girdle weakness from 10 years of age. The inheritance pattern was autosomal dominant; two siblings, his mother and maternal grandfather were similarly affected. On examination there was an...
متن کاملCardiac and pulmonary investigations in Bethlem myopathy.
BACKGROUND Bethlem myopathy is considered a relatively mild neuromuscular disorder without significant cardiac and respiratory involvement. OBJECTIVE To investigate cardiac and respiratory involvement in Bethlem myopathy. DESIGN Cross-sectional study. SETTING University hospitals. Patients Fifty patients with Bethlem myopathy from 26 families. INTERVENTIONS Cardiac examinations, includi...
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ژورنال
عنوان ژورنال: Annals of Indian Academy of Neurology
سال: 2013
ISSN: 0972-2327
DOI: 10.4103/0972-2327.120453