Source:http://linkedlifedata.com/resource/pubmed/id/17355552
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| Predicate | Object |
|---|---|
| rdf:type | |
| lifeskim:mentions | |
| pubmed:issue |
3
|
| pubmed:dateCreated |
2007-3-14
|
| pubmed:abstractText |
Emery-Dreifuss muscular dystrophy (EDMD) is an X-linked humero-peroneal muscular dystrophy associated with contractures and cardiomyopathy. In a 90 member family, we found 11 affected male individuals, three of whom displayed areflexia and neurogenic electromyographic changes. Muscle biopsy performed in one case demonstrated type grouping suggestive of a neurogenic disorder. These three individuals and another family member, who suffers from mild, static limb weakness but is clinically and genetically unaffected by EDMD showed an abnormal incremental response of over 100% to tetanic stimulation. In contrast, one affected family member showed myopathic features on needle electromyography and no definite pathology in repetitive stimulation studies. The diagnosis of EDMD was established by demonstrating a 1712_1713insTGGGC mutation in the emerin gene. This family apparently expresses co-morbidity of EDMD with an exceptionally mild form of pre-synaptic congenital myasthenic syndrome resembling the Lambert-Eaton myasthenic syndrome (LEMS). The superimposed pre-synaptic disorder may have contributed to the development of the neurogenic features demonstrated in these patients.
|
| pubmed:language |
eng
|
| pubmed:journal | |
| pubmed:citationSubset |
IM
|
| pubmed:chemical | |
| pubmed:status |
MEDLINE
|
| pubmed:month |
Mar
|
| pubmed:issn |
1468-1331
|
| pubmed:author | |
| pubmed:issnType |
Electronic
|
| pubmed:volume |
14
|
| pubmed:owner |
NLM
|
| pubmed:authorsComplete |
Y
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| pubmed:pagination |
305-8
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| pubmed:dateRevised |
2010-11-18
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| pubmed:meshHeading |
pubmed-meshheading:17355552-Adolescent,
pubmed-meshheading:17355552-Adult,
pubmed-meshheading:17355552-Arabs,
pubmed-meshheading:17355552-Child,
pubmed-meshheading:17355552-Child, Preschool,
pubmed-meshheading:17355552-Comorbidity,
pubmed-meshheading:17355552-DNA Mutational Analysis,
pubmed-meshheading:17355552-Disease Progression,
pubmed-meshheading:17355552-Female,
pubmed-meshheading:17355552-Genetic Diseases, X-Linked,
pubmed-meshheading:17355552-Genetic Linkage,
pubmed-meshheading:17355552-Genetic Predisposition to Disease,
pubmed-meshheading:17355552-Genetic Testing,
pubmed-meshheading:17355552-Genotype,
pubmed-meshheading:17355552-Humans,
pubmed-meshheading:17355552-Male,
pubmed-meshheading:17355552-Membrane Proteins,
pubmed-meshheading:17355552-Middle Aged,
pubmed-meshheading:17355552-Muscle, Skeletal,
pubmed-meshheading:17355552-Muscular Dystrophy, Emery-Dreifuss,
pubmed-meshheading:17355552-Myasthenic Syndromes, Congenital,
pubmed-meshheading:17355552-Nuclear Proteins,
pubmed-meshheading:17355552-Pedigree,
pubmed-meshheading:17355552-Phenotype
|
| pubmed:year |
2007
|
| pubmed:articleTitle |
Co-morbidity of Emery-Dreifuss muscular dystrophy and a congenital myasthenic syndrome possibly affecting the phenotype in a large Bedouin kindred.
|
| pubmed:affiliation |
Department of Neurology, Soroka Medical Center, Beer-Sheva, Israel.
|
| pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
|