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Article

An analysis of exome sequencing for diagnostic testing of the genes associated with muscle disease and spastic paraplegia.

Human mutation - 1 Apr 2012

Dias Cristina, Sincan Murat, Cherukuri Praveen F, Rupps Rosemarie, Huang Yan, Briemberg Hannah, Selby Kathryn, Mullikin James C, Markello Thomas C, Adams David R, Gahl William A, Boerkoel Cornelius F

Abstract excerpt

In this study, we assess exome sequencing (ES) as a diagnostic alternative for genetically heterogeneous disorders. Because ES readily identified a previously reported homozygous mutation in the CAPN3 gene for an individual with an undiagnosed limb girdle muscular dystrophy, we evaluated ES as a...

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Identifiers

PMID: 22311686
DOI: 10.1002/humu.22032
PMCID: PMC3329376

Genes

CAPN3

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22311686-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

Source receipt: PubMed via Helena Literature Corpus, retrieved 4 Sept 2026.

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