| Atypical facet of Möbius syndrome: association with facioscapulohumeral muscular dystrophy. | |
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MedLine Citation:
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PMID: 18059038 Owner: NLM Status: MEDLINE |
Abstract/OtherAbstract:
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We describe a patient with facioscapulohumeral muscular dystrophy (FSHD) associated with Möbius syndrome and congenital ophthalmoplegia. This 7-year-old girl had profound limitation of extraocular movements since birth, congenital facial diplegia, neonatal hypotonia, and progressive limb-girdle weakness. FSHD genetic testing revealed a pathogenic haplotype with a D4Z4 repeat of 30 kb. The father carries the same allele, although is minimally affected. This unusual case expands the genotypic-phenotypic spectrum of FSHD. |
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Authors:
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Hanna K Kolski; Norma J Leonard; Richard J L F Lemmers; John S Bamforth |
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Publication Detail:
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Type: Case Reports; Journal Article |
Journal Detail:
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Title: Muscle & nerve Volume: 37 ISSN: 0148-639X ISO Abbreviation: Muscle Nerve Publication Date: 2008 Apr |
Date Detail:
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Created Date: 2008-03-27 Completed Date: 2008-05-22 Revised Date: - |
Medline Journal Info:
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Nlm Unique ID: 7803146 Medline TA: Muscle Nerve Country: United States |
Other Details:
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Languages: eng Pagination: 526-9 Citation Subset: IM |
Affiliation:
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Department of Pediatrics, Aberhart Centre 1, University of Alberta, Edmonton, AB, Canada. Hanna.Kolski@capitalhealth.ca |
Export Citation:
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APA/MLA Format Download EndNote Download BibTex |
| MeSH Terms | |
Descriptor/Qualifier:
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Alleles Blotting, Southern Child Diagnosis, Differential Female Haplotypes Humans Mobius Syndrome / diagnosis*, genetics* Muscular Atrophy / diagnosis, genetics Muscular Dystrophy, Facioscapulohumeral / diagnosis*, genetics* Ophthalmoplegia / diagnosis, genetics Pedigree |
From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine
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