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Article

SNP-array based whole genome homozygosity mapping: a quick and powerful tool to achieve an accurate diagnosis in LGMD2 patients.

European journal of medical genetics - 1 Jan 2000

Papić Lea, Fischer Dirk, Trajanoski Slave, Höftberger Romana, Fischer Carina, Ströbel Thomas, Schmidt Wolfgang M, Bittner Reginald E, Schabhüttl Maria, Gruber Karin, Pieber Thomas R, Janecke Andreas R, Auer-Grumbach Michaela

Abstract excerpt

A large number of novel disease genes have been identified by homozygosity mapping and the positional candidate approach. In this study we used single nucleotide polymorphism (SNP) array-based, whole genome homozygosity mapping as the first step to a molecular diagnosis in the highly heterogeneous muscle disease, limb girdle muscular dystrophy (LGMD). In a consanguineous family, both affected siblings showed...

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Source

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Identifiers

PMID: 21172462
DOI: 10.1016/j.ejmg.2010.12.003
PMCID: PMC3085821

Genes

FKRP
CAPN3
CAV3

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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