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Article

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement.

Neuromuscular disorders : NMD - 1 Dec 2012

Cullup T, Lamont P J, Cirak S, Damian M S, Wallefeld W, Gooding R, Tan S V, Sheehan J, Muntoni F, Abbs S, Sewry C A, Dubowitz V, Laing N G, Jungbluth H

Abstract excerpt

Central Core Disease (CCD) and Multi-minicore Disease (MmD) (the "core myopathies") have been mainly associated with mutations in the skeletal muscle ryanodine receptor (RYR1) and the selenoprotein N (SEPN1) gene. A proportion of cases remain unresolved. Mutations in MYH7 encoding the beta myosin...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22784669
DOI: 10.1016/j.nmd.2012.06.007

Genes

MYH7
RYR1

Variants

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-22784669-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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