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Article

The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States.

Journal of human genetics - 1 Feb 2017

Reddy Hemakumar M, Cho Kyung-Ah, Lek Monkol, Estrella Elicia, Valkanas Elise, Jones Michael D, Mitsuhashi Satomi, Darras Basil T, Amato Anthony A, Lidov Hart Gw, Brownstein Catherine A, Margulies David M, Yu Timothy W, Salih Mustafa A, Kunkel Louis M, MacArthur Daniel G, Kang Peter B

Abstract excerpt

The current study characterizes a cohort of limb-girdle muscular dystrophy (LGMD) in the United States using whole-exome sequencing. Fifty-five families affected by LGMD were recruited using an institutionally approved protocol. Exome sequencing was performed on probands and selected parental samples. Pathogenic mutations and cosegregation patterns were confirmed by Sanger sequencing. Twenty-two families (40%)...

Read the complete abstract on PubMed

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Share to Distal Myopathies
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Glycogen Storage Disease Type II

Share to Muscular Dystrophies, Limb-Girdle

Share to Muscular Dystrophy, Duchenne

Share to Muscular Dystrophy, Facioscapulohumeral

Share to Myopathies, Structural, Congenital

Share to United States

Source

Open in PubMed Open full text

Identifiers

PMID: 27708273
DOI: 10.1038/jhg.2016.116
PMCID: PMC5266644

Genes

DMD
ANO5
CAPN3
FLNC
GAA
LAMA2
LMNA
RYR1
SGCA
SGCG
SMCHD1
VCP

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 6 Sept 2026. Manifest publication-graph-cohort-2026-09-06.1.

Source receipt: pubmed, retrieved 6 Sept 2026.

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