منابع مشابه
Cardiac Dysrhythmias, Cardiomyopathy and Muscular Dystrophy in Patients with Emery-Dreifuss Muscular Dystrophy and Limb-Girdle Muscular Dystrophy Type 1B
Emery-Dreifuss muscular dystrophy (EDMD) and limb-girdle muscular dystrophy type 1B (LGMD1B) are characterized by cardiac dysrhythmias, late-onset cardiomyopathy, slowly progressive skeletal myopathy and contractures of the neck, elbows and ankles. The causative mutation is either in the emerin gene (X-linked recessive EDMD) or lamin A/C gene (autosomal dominant EDMD2 or LGMD1B). We report thre...
متن کاملSpinal muscular atrophy (SMA).
? Multiple Choice Questions Section The Neuroscience Journal introduces this new section on multiple choice questions as part of its commitment to continuous education and learning in Neurosciences. Experts in various neuroscience specialties are invited to participate with their knowledge and expertise in this section. Neurology, neurosurgery, and other board residents are encouraged to read t...
متن کاملMerosin-deficient congenital muscular dystrophy type 1A.
Merosin-deficient congenital muscular dystrophy type 1A (MDC1A) is the most common form of congenital muscular dystrophy. MDC1A is caused by mutation of the laminin alpha-2 gene (LAMA2), localized to chromosome 6q22-23. The diagnosis of merosin-deficient CMD is based on the clinical findings of severe congenital hypotonia, weakness, with high blood levels of creatine kinase, WM abnormalities, a...
متن کاملUnusual inheritance of Becker type muscular dystrophy.
A family with Becker type muscular dystrophy is described, in which two females were severely affected, giving the family tree the appearance of dominant inheritance.
متن کاملEighteen Years with Spinal Muscular Atrophy (SMA) Type 1
INTRODUCTION SMA-1, also known as Werdnig-Hoffmann disease, is the most common neuromuscular disease of hypotonic newborns. Its incidence is over 1 per 8000 births and is a common cause of sudden infant death syndrome. It is characterized by the degeneration of the anterior horn cells of the spinal cord and of the motor nuclei in the lower brainstem (1). About 99% of patients have deletions in ...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2013
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-27-5-3