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Article

Muscular dystrophy with large mitochondria associated with mutations in the CHKB gene in three British patients: extending the clinical and pathological phenotype.

Neuromuscular disorders : NMD - 1 Jul 2013

Quinlivan Ros, Mitsuahashi Satomi, Sewry Caroline, Cirak Sebahattin, Aoyama Chieko, Mooore David, Abbs Stephen, Robb Stephanie, Newton Tina, Moss Celia, Birchall Daniel, Sugimoto Hiroyuki, Bushby Kate, Guglieri Michela, Muntoni Francesco, Nishino Ichizo, Straub Volker

Abstract excerpt

Three patients with CHKB deficient muscular dystrophy are described which broadens the previously described phenotype. Blood smear in one patient showed Jordans anomaly (vacuolated leukocytes). Gastrointestinal features occurred in two patients and there appeared to be acute deterioration with in...

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Source

Identifiers

PMID: 23692895
DOI: 10.1016/j.nmd.2013.04.002

Genes

CHKB

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 4 Sept 2026. Prepared record publication-23692895-2026-09-04.2. Manifest publication-graph-cohort-2026-09-04.2.

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

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