Congenital-onset central chorioretinal dystrophy associated with high myopia
نویسندگان
چکیده
منابع مشابه
Central sleep apnoea in congenital muscular dystrophy.
Sleep-disordered breathing may occur in a wide variety of neuromuscular syndromes, and may present with diverse, often isolated, symptoms or findings such as excessive daytime sleepiness, pulmonary hypertension, congestive heart failure, morning headaches, or hypoxia-induced nocturnal seizures. The authors report two sisters with congenital muscular dystrophy in whom central sleep apnoea result...
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PURPOSE To identify null mutations in novel genes associated with early-onset high myopia using whole exome sequencing. METHODS Null mutations, including homozygous and compound heterozygous truncations, were selected from whole exome sequencing data for 298 probands with early-onset high myopia. These data were compared with those of 507 probands with other forms of eye diseases. Null mutati...
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Congenital muscular dystrophies (CMDs) are autosomal recessive, heterogeneous disorders. The most frequent form in the Caucasian population is classic (occidental) CMD, characterized by exclusive muscle involvement, although abnormal brain white matter signals are occasionally observed on MRI. Recently, deficiency of merosin, the laminin isoform in skeletal muscle, has been identified in classi...
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ژورنال
عنوان ژورنال: Eye
سال: 1998
ISSN: 0950-222X,1476-5454
DOI: 10.1038/eye.1998.61