A novel 16p locus associated with BSCL2 hereditary motor neuronopathy: a genetic modifier?
نویسندگان
چکیده
منابع مشابه
Motor neuronopathy associated with adenocarcinoma of esophagus.
Neurologic paraneoplastic syndromes (NPS) are remote neurologic effects, except metastasis, of systemic cancers. These are a rare group of disorders, commonly associated with small cell lung carcinoma (SCLC).1 Various NPS have been described, including motor neuronopathy. The motor neuronopathy has commonly been described with small cell carcinoma of lung, breast cancer and lymphoproliferative ...
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Hereditary ataxias (HA) are a group of inherited neurological disorders caused by changes in genes. At least 115 different mutations in the senataxin (SETX) gene causing ataxia have been identified. There are no reports of any SETX gene mutation among the Iranian population. Here we report on two cases with homozygous and heterozygous mutations in which one patient was affected by HA with oculo...
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OBJECTIVE To identify the cause of isolated distal weakness in a family with both neuropathic and myopathic features on EMG and muscle histology. METHODS Case study with exome sequencing in 2 affected individuals, bioinformatic prioritization of genetic variants, and segregation analysis of the likely causal mutation. Functional studies included Western blot analysis of the candidate protein ...
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متن کاملClinical and Molecular Characterization of BSCL2 Mutations in a Taiwanese Cohort with Hereditary Neuropathy
BACKGROUND A small group of patients with inherited neuropathy that has been shown to be caused by mutations in the BSCL2 gene. However, little information is available about the role of BSCL2 mutations in inherited neuropathies in Taiwan. METHODOLOGY AND PRINCIPAL FINDINGS Utilizing targeted sequencing, 76 patients with molecularly unassigned Charcot-Marie-Tooth disease type 2 (CMT2) and 8 w...
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ژورنال
عنوان ژورنال: neurogenetics
سال: 2009
ISSN: 1364-6745,1364-6753
DOI: 10.1007/s10048-009-0193-1