1.
Neurol India
;
2004 Sep; 52(3): 363-4
Artículo
en Inglés
| IMSEAR
| ID: sea-120872
RESUMEN
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.
Asunto(s)
Adolescente , ADN/genética , Femenino , Genes Recesivos , Humanos , Masculino , Miotonía Congénita/genética , Reacción en Cadena de la Polimerasa de Transcriptasa Inversa , Repeticiones de Trinucleótidos
2.
Artículo
en Inglés
| IMSEAR
| ID: sea-86444
RESUMEN
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.