Familial lethal cardiomyopathy with mental retardation and scapuloperoneal muscular dystrophy.
AUTOR(ES)
Bergia, B
RESUMO
A family is described with a neuromuscular disorder characterised by possible X-linked recessive inheritance, a benign, slowly progressive muscular dystrophy with predominant humeroperoneal distribution and lack of contractures or pseudohypertrophy, central nervous system involvement, myopia and lethal cardiomyopathy. The possibility of cardiac transplant as life-saving therapy is suggested.
ACESSO AO ARTIGO
http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=1029129Documentos Relacionados
- Two adult females with a distinct familial mental retardation syndrome: non-progressive neurological symptoms with ataxia and hypotonia, similar facial appearance, hypergonadotrophic hypogonadism, and retinal dystrophy.
- Congenital muscular dystrophy with severe retrocollis and mental retardation: a report of two siblings.
- Duchenne muscular dystrophy.
- Familial amyloidosis with cranial neuropathy and corneal lattice dystrophy.
- Echinocytes in families with Duchenne muscular dystrophy.