WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon
Author:
Publisher
Springer Science and Business Media LLC
Subject
Cellular and Molecular Neuroscience,Genetics(clinical),Genetics
Link
http://link.springer.com/article/10.1007/s10048-018-0539-7/fulltext.html
Reference23 articles.
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2. Stojkovic T (2016) Hereditary neuropathies: an update. Rev Neurol (Paris) [online serial]. Elsevier Masson SAS; Epub 2016:4–7. Accessed at:. https://doi.org/10.1016/j.neurol.2016.06.007
3. Banchs I, Casasnovas C, Albert A et al (2009) Diagnosis of Charcot-Marie-Tooth disease. J Biomed Biotechnol 2009:985415
4. De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Levy N (2002) Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse. Am J Hum Genet 70(3):726–736. https://doi.org/10.1086/339274
5. Leal A, Huehne K, Bauer F, Sticht H, Berger P, Suter U, Morera B, Del Valle G, Lupski JR, Ekici A, Pasutto F, Endele S, Barrantes R, Berghoff C, Berghoff M, Neundörfer B, Heuss D, Dorn T, Young P, Santolin L, Uhlmann T, Meisterernst M, Sereda MW, Stassart RM, Meyer zu Horste G, Nave KA, Reis A, Rautenstrauss B (2009) Identification of the variant Ala335Val of MED25 as responsible for CMT2B2: molecular data; functional studies of the SH3 recognition motif and correlation between wild-type MED25 and PMP22 RNA levels in CMT1A animal models. Neurogenetics 10(4):275–287. https://doi.org/10.1007/s10048-009-0183-3
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1. A deep intronic variant in MME causes autosomal recessive Charcot–Marie–Tooth neuropathy through aberrant splicing;Journal of the Peripheral Nervous System;2024-06
2. A deep intronic variant inMMEcauses autosomal recessive Charcot-Marie-Tooth neuropathy through aberrant splicing;2024-04-24
3. Genetic characterization of non-5q proximal spinal muscular atrophy in a French cohort: the place of whole exome sequencing;European Journal of Human Genetics;2023-06-19
4. Impaired Mitochondrial Mobility in Charcot-Marie-Tooth Disease;Frontiers in Cell and Developmental Biology;2021-02-01
5. Deep geno- and phenotyping in two consanguineous families with CMT2 reveals HADHA as an unusual disease-causing gene and an intronic variant in GDAP1 as an unusual mutation;Journal of Neurology;2020-09-08
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