Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation

Search Page

Filters

My NCBI Filters

Results by year

Table representation of search results timeline featuring number of search results per year.

Year Number of Results
2009 1
2014 1
2024 0

Text availability

Article attribute

Article type

Publication date

Search Results

2 results

Results by year

Filters applied: . Clear all
Quoted phrase not found in phrase index: "Congenital muscular dystrophy-respiratory failure-skin abnormalities-joint hyperlaxity syndrome"
Page 1
Joint hypermobility as a distinctive feature in the differential diagnosis of myopathies.
Voermans NC, Bonnemann CG, Hamel BC, Jungbluth H, van Engelen BG. Voermans NC, et al. J Neurol. 2009 Jan;256(1):13-27. doi: 10.1007/s00415-009-0105-1. Epub 2009 Feb 9. J Neurol. 2009. PMID: 19221853 Review.
We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrophy, Bethlem myopathy, congenital muscular dystrophy with joint hyperlaxity, multi-minicore disease, central core …
We therefore present an overview of myopathies associated with joint hypermobility: Ullrich congenital muscular dystrop …
Syndromes presenting adducted thumb with/without clubfoot and Dundar syndrome.
Uzak AS, Fryns JP, Dundar M. Uzak AS, et al. Genet Couns. 2014;25(2):159-69. Genet Couns. 2014. PMID: 25059014
This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that includes wasted build, hyperextensible, thin and translucent skin with atrophic scarring, severe congenital contractures of fingers an …
This syndrome is an autosomal-recessive very rare disorder characterized by typical facial appearance with dysmorphic features that i …