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• W2894953288 abstract "Immunoglobulin-helicase-μ-binding protein 2 (IGHMBP2) mutations are associated with partial continuum between two extremes of rapidly lethal disorder of spinal muscular atrophy with respiratory distress type 1 (SMARD1), with infantile axonal neuropathy, diaphragmatic weakness and commonly death before 1 year of age, and Charcot-Marie-Tooth disease (CMT) type 2S with slowly progressive weakness and sensory loss but no significant respiratory compromise. We present an atypical case of CMT2S. A 9 month old boy presented with bilateral feet deformities and axonal neuropathy. Genetic testing revealed two heterozygous variants in the IGHMBP2 gene: c.1156 T > C p.(Trp386Arg) in exon 8 and c.2747G > A p.(Cys916Tyr) in exon 14, that were inherited from his father and mother respectively. At 9 years, he developed diaphragmatic weakness, following which he was established on non-invasive ventilation. Our case emphasizes the importance of life long respiratory surveillance for patients with CMT2S and expands the phenotype of this condition." @default.
• W2894953288 created "2018-10-12" @default.
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• W2894953288 date "2018-12-01" @default.
• W2894953288 modified "2023-09-27" @default.
• W2894953288 title "Charcot Marie Tooth disease type 2S with late onset diaphragmatic weakness: An atypical case" @default.
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• W2894953288 doi "https://doi.org/10.1016/j.nmd.2018.09.008" @default.
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