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Article

Multi-minicore disease revisited.

Arquivos de neuro-psiquiatria - 1 Dec 2004

Nucci Anamarli, Queiroz Luciano S, Zambelli Helder J L, Martins Filho José

Abstract excerpt

Multi-minicore disease (MmD) is an infrequent congenital myopathy, defined by structural changes in optic and electron microscopy, namely, multiple small areas lacking oxidative enzyme activity and focal disorganization of contractile proteins involving at most a few sarcomeres. The classical form of the disease manifests as more or less severe hypotonia and generalized weakness with predominance in axial and...

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Source

Identifiers

PMID: 15608948
DOI: 10.1590/s0004-282x2004000600002

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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