Autosomal recessive oculopharyngeal muscular dystrophy.
نویسندگان
چکیده
منابع مشابه
Oculopharyngeal 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 کاملSevere childhood autosomal recessive muscular dystrophy, mental subnormality and chorea.
Severe childhood autosomal recessive muscular dystrophy (SCARMD) is characterized by a severe Duchene muscular dystrophy like phenotype. Most such cases represent alpha or gamma sarcoglycanopathies. Mental subnormality is very uncommon and other central nervous system deficits have not been documented in patients with SCARMD. We report a brother and sister with the SCARMD phenotype, who additio...
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 کاملFamilial 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 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...
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ژورنال
عنوان ژورنال: Journal of Medical Genetics
سال: 1975
ISSN: 1468-6244
DOI: 10.1136/jmg.12.4.416