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Article

Congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with progressive cerebellar ataxia.

American journal of medical genetics. Part A - 1 Jul 2007

Yoshida Kunihiro, Okano Tomomi, Hoshi Kenichi, Yahikozawa Hiroyuki, Suzuki Kayo, Banno Haruhiko, Tamura Takuya, Sobue Gen, Ikeda Shu-ichi

Abstract excerpt

We here report on a Japanese family with congenital fibrosis of the extraocular muscles (CFEOM) syndrome associated with slowly progressive cerebellar ataxia. The pedigree indicated autosomal dominant inheritance. All affected individuals showed a complete loss of upgaze function with ptosis, and severe or moderate restriction of downgaze function probably from the birth. Horizontal gaze function was well...

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Source

Identifiers

PMID: 17551929
DOI: 10.1002/ajmg.a.31795

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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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