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Article

Abnormal distribution of calcium-handling proteins: a novel distinctive marker in core myopathies.

Journal of neuropathology and experimental neurology - 1 Jan 2007

Herasse Muriel, Parain Karine, Marty Isabelle, Monnier Nicole, Kaindl Angela M, Leroy Jean-Paul, Richard Pascale, Lunardi Jöel, Romero Norma B, Ferreiro Ana

Abstract excerpt

Central core disease (CCD) and multi-minicore disease (MmD) are muscle disorders characterized by foci of mitochondria depletion and sarcomere disorganization ("cores") in muscle fibers. Although core myopathies are the most frequent congenital myopathies, their pathogenesis remains elusive and specific diagnostic markers are lacking. Core myopathies are mostly caused by mutations in 2 sarcoplasmic reticulum...

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Source

Identifiers

PMID: 17204937
DOI: 10.1097/NEN.0b013e31802d47ce

Genes

RYR1

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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