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Article

Muscular dystonia and athetosis in six patients with congenital nephrotic syndrome of the Finnish type (NPHS1).

Pediatric nephrology (Berlin, Germany) - 1 Feb 2006

Laakkonen Hanne, Lönnqvist Tuula, Uusimaa Johanna, Qvist Erik, Valanne Leena, Nuutinen Matti, Ala-Houhala Marja, Majamaa Kari, Jalanko Hannu, Holmberg Christer

Abstract excerpt

Congenital nephrotic syndrome of the Finnish type (NPHS1, CNF) is an autosomal recessively inherited disease occurring due to mutations in the nephrin gene (NPHS1). Two main Finnish mutations exist: Fin-major and minor, which both cause a lack of nephrin and absence of the slit diaphragm between the podocytes. This leads to severe proteinuria, nephrotic syndrome and infections, and without dialysis or renal...

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Source

Identifiers

PMID: 16362719
DOI: 10.1007/s00467-005-2116-1

Genes

NPHS1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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Congenital nephrotic syndrome of the Finnish type in Italy: a molecular approach.Semantic proximity Read ↗

Thirteen novel NPHS1 mutations in a large cohort of children with congenital nephrotic syndrome.Semantic proximity Read ↗

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