Hereditary axonal neuropathy related to MME gene mutation in a family with fetomaternal alloimmune glomerulonephritis
Author:
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Link
http://link.springer.com/content/pdf/10.1007/s13760-020-01275-9.pdf
Reference13 articles.
1. Higuchi Y, Hashiguchi A, Yuan J et al (2016) Mutations in MME cause an autosomal-recessive Charcot-Marie-Tooth disease type 2. Ann Neurol 79:659–672
2. Auer-Grumbach M, Toegel S, Schabhuttl M et al (2016) Rare variants in MME, encoding metalloprotease neprilysin, are linked to late-onset autosomal-dominant axonal polyneuropathies. Am J Hum Genet 99:607–623
3. Debiec H, Guigonis V, Mougenot M et al (2002) Antenatal membranous glomerulonephritis due to anti-neutral endopeptidase antibodies. N Engl J Med 346:2053–2060
4. Debiec H, Nauta J, Coulet F et al (2004) Role of truncating mutations in MME gene in foetomaternal alloimmunisation and antenatal glomerulopathies. Lancet 364:1252–1259
5. Nortier JL, Debiec H, Tournay Y et al (2006) Neonatal disease in neutral endopeptidase alloimmunization: lessons for immunological monitoring. Pediatr Nephrol 21:1399–1405
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2. A polymorphic AT-repeat causes frequent allele dropout for an MME mutational hotspot exon;Journal of Medical Genetics;2022-03-22
3. Antenatal Membranous Nephropathy and Type 2 (Axonal) Charcot-Marie-Tooth With Mutations in the Metallo-Membrane Endopeptidase Gene: A Call for Family Screening and Pharmacovigilance;Kidney International Reports;2021-07
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