Autosomal dominant Brody disease cosegragates with a chromosomal (2;7)(p11.2;p12.1) trranslocation in an Italian family

European Journal of Human Genetics

Volumn 12, Issue 7, 2004, Pages 579-583

  Novelli, Antonio ^a   Valente, Enza Maria ^a   Bernardini, Laura ^a,b   Ceccarini, Caterina ^a,b   Sinibaldi, Lorenzo ^a,b   Caputo, Viviana ^a,b   Cavalli, Pietro ^c   Dallapiccola, Bruno ^a,b  

^a CASA SOLLIEVO DELLA SOFFERENZA HOSPITAL   (Italy)

^b SAPIENZA UNIVERSITY OF ROME   (Italy)

^c Servizio di Genetica   (Italy)

Author keywords

Autosomal dominant; Brody disease; FISH; Linkage; Translocation

Indexed keywords

ADENOSINE TRIPHOSPHATASE (CALCIUM); CALCIUM ION;

ADULT; ARTICLE; AUTOSOMAL DOMINANT INHERITANCE; BRODY DISEASE; CALCIUM TRANSPORT; CASE REPORT; CHROMOSOME 2P; CHROMOSOME 7P; CHROMOSOME ANALYSIS; CHROMOSOME TRANSLOCATION; CONTROLLED STUDY; FEMALE; FLUORESCENCE IN SITU HYBRIDIZATION; GENETIC LINKAGE; GENOTYPE; HUMAN; ITALY; LINKAGE ANALYSIS; MALE; MUSCLE DISEASE; PHENOTYPE; PRIORITY JOURNAL; SARCOPLASMIC RETICULUM; THOMSEN DISEASE;

ADULT; CALCIUM-TRANSPORTING ATPASES; CHROMOSOME MAPPING; CHROMOSOME PAINTING; CHROMOSOMES, ARTIFICIAL, YEAST; CHROMOSOMES, HUMAN, PAIR 2; CHROMOSOMES, HUMAN, PAIR 7; FEMALE; GENETIC HETEROGENEITY; HUMANS; ITALY; LINKAGE (GENETICS); LOD SCORE; MALE; MIDDLE AGED; MYOTONIC DISORDERS; PEDIGREE; SARCOPLASMIC RETICULUM CALCIUM-TRANSPORTING ATPASES; TRANSLOCATION, GENETIC;

EID: 4043093416     PISSN: 10184813     EISSN: None     Source Type: Journal    
DOI: 10.1038/sj.ejhg.5201200     Document Type: Article

References (17)

1. Brody TA: Muscle contracture induced by exercise. A syndrome attributable to decreased relaxing factor. N Engl J Med 1969; 290: 187-192.
2. 2+-adenosine triphosphatase in sarcoplasmic reticulum (Brody's disease). Ann Neurol 1986; 20: 38-49.
3. 2+ homeostasis in Brody's disease. A study in skeletal muucle and cultured muscle cells and the effects on Dantrolene and Verapamil. J Clin Invest 1994; 94: 741-748.
4. 2+-ATPase, are associated with Brody disease. Nat Genet 1996; 14: 191-194.
5. Danon MJ, Karpati G, Charuk J, Holland P: Sarcoplasmic reticulum adenosine triphosphatase deficiency with probable autosomal dominant inheritance. Neurology 1988; 38: 812-815.
6. 2+-ATPase of human fast-twitch skeletal muscle sarcoplasmic reticulum, and its elimination as a candidate gene for Brody disease in three patients. Genomics 1995; 30: 415-424.
7. Odermatt A, Taschner PE, Scherer SW et al: Characterization of the gene encoding human sarcolipin (SLN), a proteolipid associated with SERCA1: absence of structural mutations in five patients with Brody disease. Genomics 1997; 45: 541-553.
8. Braakhekke JP, de Bruin MI, Stegeman DF, Wevers RA, Binkhorst RA, Joosten EMG: The second wind phenomenon in McArdle's disease. Brain 1986; 109: 1087-1101.
9. McManis PG, Lambert EH, Daube JR: The exercise test in periodic paralysis. Muscle Nerve 1986; 9: 704-710.
10. Cottingham Jr RW, Idury RM, Schaffer AA: Faster sequential genetic linkage computations. Am J Hum Genet 1993; 53: 252-263.
11. Chong SS, Pack SD, Roschke AV et al: A revision of the lissencephaly and Miller-Dieker syndrome critical regions in chromosome 17p13.3. Hum Mol Genet 1997; 6: 147-155.
12. Kleinjan D-J, van Heyningen V: Position effect in human genetic disease. Hum Mol Genet 1998; 7: 1611-1618.
13. Icho T, Ikeda T, Matsumoto Y, Hanaoka F, Kaji K, Tsuchida N: A novel human gene that is preferentially transcribed in heart muscle. Gene 1994; 144: 301-306.
14. Zeng Q, Subramaniam VN, Wong SH et al: A novel synaptobrevin/VAMP homologous protein (VAMP5) is increased during in vitro myogenesis and present in the plasma membrane. Mol Biol Cell 1998; 9: 2423-2437.
15. 2+ release channel (ryanodine receptor). J Biol Chem 2003; 278: 3786-3792.
16. Wirth J, Wagner T, Meyer J et al: Translocation breakpoints in three patients with campomelic dysplasia and autosomal sex reversal map more than 130 kb from SOX9. Hum Genet 1996; 97: 186-193.
17. Lettice L, Horikoshi T, Heaney SJH et al: Disruption of a long-range cis-acting regulator for Shh causes preaxial polydactyly. Proc Natl Acad Sci USA 2002; 99: 7548-7553.