Becker's variant of myotonia congenita in two siblings- A clinico-genetic study

Neurology India

Volumn 52, Issue 3, 2004, Pages 363-364

  Bhattacharyya, Kalyan B ^a   Sengupta, P ^a   Basu, S ^a   Bhattacharya, N P ^a  

^a CALCUTTA NATIONAL MEDICAL COLLEGE   (India)

Author keywords

Becker's variant; Myotonia congenita; Trinucleotide repeat

Indexed keywords

DNA;

ADOLESCENT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; CLINICAL EXAMINATION; CLINICAL FEATURE; DISEASE CLASSIFICATION; GAIT DISORDER; GENETIC ANALYSIS; HUMAN; LABORATORY TEST; MALE; PHYSICAL EXAMINATION; SIBLING; THOMSEN DISEASE; TRINUCLEOTIDE REPEAT;

ADOLESCENT; DNA; FEMALE; GENES, RECESSIVE; HUMANS; MALE; MYOTONIA CONGENITA; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; TRINUCLEOTIDE REPEATS;

EID: 7244239193     PISSN: 00283886     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Becker PE. Heterozygote manifestation in recessive generalized myotonia. Human Genet 1979;46:325-9.
2. Fahlke C, Beck CL, George AL Jr. A mutation in autosomal dominant myotonia affects pore properties of the muscle chloride channel. Proc Natl Acad Sci USA 1997;94:2729-34.
3. Basu P, Majumder PP, Roychoudhury S, Bhattacharyya NP. Haplotype analysis of genomic polymorphisms in and around the myotonic dystrophy locus in diverse populations of India. Human Genet 2001;108:310-7.
4. Basu P, Ganguly PK, Basu D, Bhattacharyya NP. Molecular diagnosis of myotonic dystrophy and Huntington's disease from Calcutta, India. Neurol India 1998;46:199-203.
5. Esteban J, Neumeyer AM, McKenna-Yasek D, Brown RH. Identification of two mutations and a polymorphism, in the chloride channel CLCN-1 in patients with Becker's generalized myotonia. J Neurogenet 1998:1;185-8.
6. Sun SF, Streib EW. Autosomal recessive generalized myotonia. Muscle Nerve 1983;6:143-8.
7. Sunohara N, Tomi H, Nakamura A, Arahata K, Nonaka I. Myotonia congenital with painful muscle cramps. Intern Med 1996;35:507-11.
8. Wadia RS, Amin RB, Prayag SV, Chanratare SN, Sardesai HV. Recessive generalized myotonia. Neurol India 1977;25:35-7.
9. Prabhakar S, Chopra JS. Autosomal recessive generalised myotonia. (A case report). J Assoc Physic Ind 1981;29:791-3.
10. Sheela SR. Myotonia congenita: Response to carbamazepine. Indian Pediatr 2000;37:1122-5.