Document Detail


Facioscapulohumeral (FSHD1) and other forms of muscular dystrophy in the same family: is there more in muscular dystrophy than meets the eye?
MedLine Citation:
PMID:  12117479     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
We report on two unrelated Brazilian families with members affected by two different forms of muscular dystrophy. In the first one, the 35-year-old male proband has limb-girdle muscular dystrophy with proximal weakness, elevated creatine kinase and a myopathic muscle biopsy. All the proteins known to be associated with limb-girdle muscular dystrophy were normal. Two of his sisters also complained of muscle weakness. The oldest sister showed clinical signs consistent with facioscapulohumeral muscular dystrophy, confirmed through molecular analysis. She presented a 30 kb EcoRI/BlnI fragment which was found in another six relatives, but surprisingly not in the affected proband or the other sister. In the second family, a 57-year-old male with a typical facioscapulohumeral muscular dystrophy phenotype has a 17 kb EcoRI/BlnI fragment, which was also present in other affected relatives. However in a 14-year-old severely affected male cousin, confined to a wheelchair since age 12, but without facial weakness, the small fragment was absent. These families illustrate the importance of testing all affected individuals in a family.
Authors:
M M O Tonini; M R Passos-Bueno; A Cerqueira; R Pavanello; M Vainzof; V Dubowitz; M Zatz
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  Neuromuscular disorders : NMD     Volume:  12     ISSN:  0960-8966     ISO Abbreviation:  Neuromuscul. Disord.     Publication Date:  2002 Aug 
Date Detail:
Created Date:  2002-07-15     Completed Date:  2002-10-09     Revised Date:  2006-11-15    
Medline Journal Info:
Nlm Unique ID:  9111470     Medline TA:  Neuromuscul Disord     Country:  England    
Other Details:
Languages:  eng     Pagination:  554-7     Citation Subset:  IM    
Affiliation:
Center for the study of Human Genome, Department of Biology, University of São Paulo, Rua do Matão, 277, CEP 05508-900, São Paulo, Brazil.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Biopsy
Brazil
Chromosome Aberrations
Electromyography
Electrophoresis, Gel, Pulsed-Field
Female
Humans
Male
Middle Aged
Muscle, Skeletal / physiopathology
Muscular Dystrophies / genetics*,  physiopathology
Muscular Dystrophy, Facioscapulohumeral / genetics*,  physiopathology
Pedigree
Phenotype

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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