Focal segmental glomerulosclerosis and dilated cardiomyopathy

MedGen UID:: 865070
•Concept ID:: C4016633
•: Finding

Synonym:	FOCAL SEGMENTAL GLOMERULOSCLEROSIS AND DILATED CARDIOMYOPATHY

OMIM®:	590100

Recent clinical studies

Diagnosis

Homozygosity for a Rare FASTKD2 Variant Resulting in an Adult Onset Autosomal Recessive Mitochondrial Podocytopathy.

Gonçalves FP, Tavares I, Silva R, Nunes AT, Pereira L, Campos A, Pinto J, Lopes A, Simões M, Grazina M, Fogo AB, Oliveira JP
Am J Kidney Dis 2025 Jan;85(1):119-123. Epub 2024 Jul 31 doi: 10.1053/j.ajkd.2024.05.018. PMID: 39094958

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Clinical prediction guides

Extreme phenotypic diversity and nonpenetrance in families with the LMNA gene mutation R644C.

Rankin J, Auer-Grumbach M, Bagg W, Colclough K, Nguyen TD, Fenton-May J, Hattersley A, Hudson J, Jardine P, Josifova D, Longman C, McWilliam R, Owen K, Walker M, Wehnert M, Ellard S
Am J Med Genet A 2008 Jun 15;146A(12):1530-42. doi: 10.1002/ajmg.a.32331. PMID: 18478590

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Focal segmental glomerulosclerosis and dilated cardiomyopathy

Recent clinical studies

Diagnosis

Clinical prediction guides

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