Phenotypic variation of a Thr704Met mutation in skeletal sodium channel gene in a family with paralysis periodica paramyotonica
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A Novel Missense Mutation in CLCN1 Gene in a Family with Autosomal Recessive Congenital Myotonia
Congenital recessive myotonia is a rare genetic disorder caused by mutations in CLCN1, which codes for the main skeletal muscle chloride channel ClC-1. More than 120 mutations have been found in this gene. The main feature of this disorder is muscle membrane hyperexcitability. Here, we report a 59-year male patient suffering from congenital myotonia. He had transient generalized myotonia, which...
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Background and Objectives: Jalili syndrome is a rare autosomal recessive genetic disorder, which so far, only 33 families with this disorder have been reported worldwide. Patients with this disease simultaneously develop cone-rod retinal dystrophy (CRD) and amelogenesis imperfecta (AI). In this study, a mutation causing Jalili syndrome, was investigated in an Iranian family. Case Report: The...
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9. Fontaine B, Khurana TS, Hoffman EP et al. Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene. Science 1990; 250: 1000–1002 10. Ptacek LJ, George AL Jr, Griggs RC et al. Identification of a mutation in the gene causing hyperkalemic periodic paralysis. Cell 1991; 67: 1021–1027 11. Rojas CV, Wang JZ, Schwartz LS et al. A Met-to-Val mutation in the skeletal mu...
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Introduction: Pathogenic variants of RUNX2, a gene that encodes an osteoblast-specific transcription factor, have been shown as the cause of CCD, which is a rare hereditary skeletal and dental disorder with dominant mode of inheritance and a broad range of clinical variability. Due to the relative lack of clinical complications resulting in CCD, the medical diagnosis of this disorder is challen...
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Familial hyperkalemic periodic paralysis (HYPP) is an autosomaldominant channelopathy characterized by transient and recurrent episodes of paralysis with concomitant hyperkalemia. Mutations in the skeletal muscle voltage-gated sodium channel gene SCN4A have been reported to be responsible for this disease. Here, we report the case of a 16-year-old girl with HYPP whose mutational analysis reveal...
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ژورنال
عنوان ژورنال: Journal of Neurology, Neurosurgery & Psychiatry
سال: 2001
ISSN: 0022-3050
DOI: 10.1136/jnnp.70.5.618