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Article

Clinical and functional effects of a deletion in a COOH-terminal lumenal loop of the skeletal muscle ryanodine receptor.

Human molecular genetics - 15 Feb 2003

Zorzato Francesco, Yamaguchi Naohiro, Xu Le, Meissner Gerhard, Müller Clemens R, Pouliquin Pierre, Muntoni Francesco, Sewry Caroline, Girard Thierry, Treves Susan

Abstract excerpt

We have identified a patient affected by a relatively severe form of central core disease (CCD), carrying a heterozygous deletion (amino acids 4863-4869) in the pore-forming region of the sarcoplasmic reticulum calcium release channel. The functional effect of this deletion was investigated (i) in lymphoblastoid cells from the affected patient and her mother, who was also found to harbour the mutation and (ii) in...

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Identifiers

PMID: 12566385
DOI: 10.1093/hmg/ddg032

Genes

RYR1

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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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