Dominantly Inherited Nemaline Myopathy
نویسندگان
چکیده
منابع مشابه
Dominantly inherited tubular aggregate myopathy.
We report an unusual familial myopathy characterized morphologically by the presence of large tubular aggregates in all fibre types. Two patients, a father and daughter, presented with slowly progressive proximal weakness, limitation of eye movement, and Achilles tendon contractures. Serum creatine kinase was 5-10 times normal. Light microscopy revealed type I fibre predominance. Basophilic acc...
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OBJECTIVE To identify the causative gene in an autosomal dominant limb-girdle muscular dystrophy (LGMD) with skeletal muscle vacuoles. METHODS Exome sequencing was used to identify candidate mutations in the studied pedigree. Genome-wide linkage was then used to narrow the list of candidates to a single disease-associated mutation. Additional pedigrees with dominant or sporadic myopathy were ...
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Geneticists worry that their patients and the patients’ families will be subject to unfair discrimination by medical underwriters when the results of DNA tests show that the patients are predisposed to certain diseases. They point out that these individuals may be healthy at the time the test is carried out and that, without the test, they would be considered standard insurance risks. This appr...
متن کاملSarcomere Dysfunction in Nemaline Myopathy
Nemaline myopathy (NM) is among the most common non-dystrophic congenital myopathies (incidence 1:50.000). Hallmark features of NM are skeletal muscle weakness and the presence of nemaline bodies in the muscle fiber. The clinical phenotype of NM patients is quite diverse, ranging from neonatal death to normal lifespan with almost normal motor function. As the respiratory muscles are involved as...
متن کاملFatal nemaline myopathy in infancy.
The clinical and neuropathological findings in two infants with congenital nemaline myopathy are described. One patient presented at birth with severe hypotonia, respiratory failure and contractures and died shortly after the neonatal period. The other presented at age two months with hypotonia and, following a period of clinical stability, died at age seven months from respiratory failure. Pat...
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ژورنال
عنوان ژورنال: Pediatric Neurology Briefs
سال: 2003
ISSN: 2166-6482,1043-3155
DOI: 10.15844/pedneurbriefs-17-8-8