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Article

Dominant mutation of CCDC78 in a unique congenital myopathy with prominent internal nuclei and atypical cores.

American journal of human genetics - 10 Aug 2012

Majczenko Karen, Davidson Ann E, Camelo-Piragua Sandra, Agrawal Pankaj B, Manfready Richard A, Li Xingli, Joshi Sucheta, Xu Jishu, Peng Weiping, Beggs Alan H, Li Jun Z, Burmeister Margit, Dowling James J

Abstract excerpt

Congenital myopathies are clinically and genetically heterogeneous diseases that typically present in childhood with hypotonia and weakness and are most commonly defined by changes observed in muscle biopsy. Approximately 40% of congenital myopathies are currently genetically unresolved. We identified a family with dominantly inherited congenital myopathy characterized by distal weakness and biopsy changes that...

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Identifiers

PMID: 22818856
DOI: 10.1016/j.ajhg.2012.06.012
PMCID: PMC3415545

Genes

CCDC78

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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