The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V
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چکیده
منابع مشابه
The phenotype of motor neuropathies associated with BSCL2 mutations is broader than Silver syndrome and distal HMN type V.
Silver syndrome is a rare autosomal dominant neurodegenerative disorder characterized by marked amyotrophy and weakness of small hand muscles and spasticity in the lower limbs. The locus for Silver syndrome (SPG17) was assigned to a 13 cM region on chromosome 11q12-q14 in a single large pedigree. We recently found heterozygous mutations in the Berardinelli-Seip congenital lipodystrophy (BSCL2, ...
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چکیده ندارد.
Distal hereditary motor neuropathy type II (distal HMN II): mapping of a locus to chromosome 12q24.
The distal hereditary motor neuropathy (distal HMN) or the spinal form of Charcot-Marie-Tooth (CMT) disease is an exclusively motor disorder of the peripheral nervous system. The disorder clinically resembles the hereditary motor and sensory neuropathies (HMSN) type I and type II or CMT type 1 and type 2. Distal HMN might also be related to the spinal muscular atrophies (SMA) since, in both dis...
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Background and Objectives: There is convincing evidence that subjects concomitantly affected by type 2 diabetes (T2D) and metabolic syndrome (MeS) are at greater risk for cardiovascular disease (CVD). Many metabolic derangements in T2D might be attributed to poor vitamin D status. The purpose of this study was to investigate the associations among vitamin D status, MeS and glycemic status in su...
متن کاملRelative contribution of mutations in genes for autosomal dominant distal hereditary motor neuropathies: a genotype-phenotype correlation study.
Distal hereditary motor neuropathy (HMN) is a clinically and genetically heterogeneous group of disorders affecting spinal alpha-motor neurons. Since 2001, mutations in six different genes have been identified for autosomal dominant distal HMN; glycyl-tRNA synthetase (GARS), dynactin 1 (DCTN1), small heat shock 27 kDa protein 1 (HSPB1), small heat shock 22 kDa protein 8 (HSPB8), Berardinelli-Se...
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ژورنال
عنوان ژورنال: Brain
سال: 2004
ISSN: 1460-2156
DOI: 10.1093/brain/awh232