1.
Neurol India
;
2004 Sep; 52(3): 363-4
Artigo
em Inglês
| IMSEAR
| ID: sea-120872
RESUMO
We report a family of a brother and sister of myotonia congenita, conforming to autosomal recessive transmission (Becker's variety). To the best of our knowledge, no account of a family of autosomal recessive myotonia (Becker's disease), has earlier been reported from India.
Assuntos
Adolescente , DNA/genética , Feminino , Genes Recessivos , Humanos , Masculino , Miotonia Congênita/genética , Reação em Cadeia da Polimerase Via Transcriptase Reversa , Repetições de Trinucleotídeos
2.
Artigo
em Inglês
| IMSEAR
| ID: sea-86444
RESUMO
Fifty six years lady presented with pure cerebellar ataxia with positive family history from paternal side presented to our clinic. DNA screening found to be SCA6. This is the first case report of SCA6 from India.