Autosomal dominant moyamoya disease maps to chromosome 17q25.3
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چکیده
منابع مشابه
Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12-q13.3.
C harcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders that involve the peripheral nervous system. It is characterised by progressive distal neurogenic muscular atrophy and weakness that initially affects the peroneal muscles and later the hands. Charcot-Marie-Tooth disease type 1 (CMT1), also called hereditary motor and sensory neuropathy type I (HM...
متن کاملAutosomal dominant restless legs syndrome maps on chromosome 14q.
Restless legs syndrome (RLS) is a common neurological disorder characterized by an irresistible desire to move the extremities associated with paraesthesia/dysaesthesia. These symptoms occur predominantly at rest and worsen at night, resulting in nocturnal insomnia and chronic sleep deprivation. In this paper, we show significant evidence of linkage to a new locus for RLS on chromosome 14q13-21...
متن کاملLETTER TO JMG A locus for autosomal dominant keratoconus maps to human chromosome 3p14–q13
K eratoconus (OMIM148300) is a bilateral, non-inflammatory, slowly progressive, corneal ectasia that is a major cause of corneal transplant. Characteristically, the cornea becomes thin and conical, with myopia and irregular astigmatism that leads to vision impairment. The incidence of keratoconus is between 50 and 230 per 100 000, with remarkable differences between ethnic groups. Although the ...
متن کاملLETTER TO JMG Autosomal dominant axonal Charcot-Marie-Tooth disease type 2 (CMT2G) maps to chromosome 12q12–q13.3
C harcot-Marie-Tooth (CMT) disease is a clinically and genetically heterogeneous group of disorders that involve the peripheral nervous system. It is characterised by progressive distal neurogenic muscular atrophy and weakness that initially affects the peroneal muscles and later the hands. Charcot-Marie-Tooth disease type 1 (CMT1), also called hereditary motor and sensory neuropathy type I (HM...
متن کاملAutosomal dominant hereditary benign telangiectasia maps to the CMC1 locus for capillary malformation on chromosome 5q14.
T elangiectases are characterised by an abnormal permanent dilatation of end vessels—mainly venules but occasionally also capillaries and arterioles—in the subpapillary plexus in the upper part of the dermis. Hereditary benign telangiectasia (HBT; OMIM 187260) is a rare genetic skin disorder classified among the primary or idiopathic telangiectases. Affected individuals present with widespread ...
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ژورنال
عنوان ژورنال: Neurology
سال: 2008
ISSN: 0028-3878,1526-632X
DOI: 10.1212/01.wnl.0000291012.49986.f9