Becker's variant of myotonia congenita in two siblings--a clinico-genetic study.
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.
Bhattacharyya
Kalyan B
KB
Department of Neurology, Calcutta National Medical College and Hospital, 24 Gorachand Road, Calcutta 700014, India. kalyan_b@onlysmart.com
Sengupta
P
P
Basu
S
S
Bhattacharya
N P
NP
D000293:Adolescent; D004247:DNA / Q000235:genetics; D005260:Female; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009224:Myotonia Congenita / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D020133:Reverse Transcriptase Polymerase Chain Reaction; D018911:Trinucleotide Repeats
D004247:DNA