Familial late onset oculopharyngeal muscular dystrophy.
نویسندگان
چکیده
منابع مشابه
Familial late onset oculopharyngeal muscular dystrophy.
An English family is described several members of which have suffered from oculopharyngeal muscular dystrophy. No symptoms were noticed in any affected members of the family until aged at least 50 years. An autosomal dominant pattern of inheritance is clearly shown.
متن کاملFamilial muscular dystrophy of late onset.
Two related cases of a proximal muscular dystrophy are described with the full postmortem findings in one of them. The strong family history is recorded. The condition was clinically predominant in the proximal limb muscles and showed an autosomal dominant type of inheritance with complete penetrance.
متن کاملOculopharyngeal muscular dystrophy
Keywords Disease name and synonyms Definition/Diagnosis criteria Excluded diseases Prevalence Clinical description Management including treatment Etiology / Heredity Diagnostic methods Genetic counseling Antenatal diagnosis Unresolved questions References Abstract Oculopharyngeal muscular dystrophy (OPMD) is an autosomal dominant form of late-onset slowly progressive myopathy characterized by e...
متن کاملOculopharyngeal muscular dystrophy or oculopharyngeal distal myopathy: case report.
a Universidade Federal de São Paulo (UNIFESP), Fellowship em Otorrinolaringologia Pediátrica, São Paulo, SP, Brazil b Universidade Federal de São Paulo (UNIFESP), Fellowship em Laringologia, São Paulo, SP, Brazil c Universidade Federal de São Paulo (UNIFESP), Departamento de Fonoaudiologia, São Paulo, SP, Brazil d Universidade Federal de São Paulo (UNIFESP), Departamento de ORL-CCP, São Paulo, ...
متن کاملOculopharyngeal muscular dystrophy in Hispanic New Mexicans.
CONTEXT Oculopharyngeal muscular dystrophy (OPMD) is a rare myopathy caused by polyalanine triplet repeat expansion in the gene for poly(A) binding protein 2 (PABP2) and is found in isolated cohorts throughout the world. We have observed numerous cases of OPMD in New Mexico. OBJECTIVE To characterize the clinical, genetic, and demographic features of the OPMD population in New Mexico. DESIG...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Postgraduate Medical Journal
سال: 1981
ISSN: 0032-5473
DOI: 10.1136/pgmj.57.663.41