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Article

A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.

The Journal of biological chemistry - 24 Feb 2006

Sher Roger B, Aoyama Chieko, Huebsch Kimberly A, Ji Shaonin, Kerner Janos, Yang Yan, Frankel Wayne N, Hoppel Charles L, Wood Philip A, Vance Dennis E, Cox Gregory A

Abstract excerpt

Muscular dystrophies include a diverse group of genetically heterogeneous disorders that together affect 1 in 2000 births worldwide. The diseases are characterized by progressive muscle weakness and wasting that lead to severe disability and often premature death. Rostrocaudal muscular dystrophy (rmd) is a new recessive mouse mutation that causes a rapidly progressive muscular dystrophy and a neonatal forelimb...

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Source

Identifiers

PMID: 16371353
DOI: 10.1074/jbc.M512578200

Genes

CHKB

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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A rostrocaudal muscular dystrophy caused by a defect in choline kinase beta, the first enzyme in phosphatidylcholine biosynthesis.PMID 16371353Read ↗

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