Prenatal diagnosis of limb-girdle muscular dystrophy type 2C

Prenatal Diagnosis

Volumn 18, Issue 12, 1998, Pages 1300-1303

  Dincer P ^a   Piccolo, F ^b   Leturcq, F ^b   Kaplan, J C ^b   Jeanpierre, M ^b   Topaloglu H ^a  

^a HACETTEPE UNIVERSITY   (Turkey)

^b INSERM   (France)

Author keywords

sarcoglycan deficiency; Limb girdle muscular dystrophy; Prenatal diagnosis

Indexed keywords

SARCOGLYCAN;

ARTICLE; CASE REPORT; CHROMOSOME 13Q; FEMALE; FETUS; GENE DELETION; GENE MUTATION; HUMAN; HUMAN TISSUE; LIMB GIRDLE MUSCULAR DYSTROPHY; MALE; PRENATAL DIAGNOSIS; PRIORITY JOURNAL; SCHOOL CHILD;

ADULT; CHILD; CHROMOSOME ABERRATIONS; CHROMOSOME DISORDERS; CHROMOSOMES, HUMAN, PAIR 13; CONSANGUINITY; CYTOSKELETAL PROTEINS; DNA MUTATIONAL ANALYSIS; DYSTROPHIN; FEMALE; HUMANS; MALE; MEMBRANE GLYCOPROTEINS; MUSCLE, SKELETAL; MUSCULAR DYSTROPHIES; PEDIGREE; PREGNANCY; PRENATAL DIAGNOSIS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION; SARCOGLYCANS;

EID: 0032420591     PISSN: 01973851     EISSN: None     Source Type: Journal    
DOI: 10.1002/(SICI)1097-0223(199812)18:12<1300::AID-PD436>3.0.CO;2-H     Document Type: Article

References (14)

1. Ben Othmane, K., Ben Hamida, M., Pericak-Vance, M.A., Ben Hamida, C., Blel, S., Carter, S., Bowcock, A.M., Petruhkin, K., Gilliam, T.C., Roses, A.D., Hentati, F., Vance, J.M. (1992). Linkage of Tunisian autosomal recessive Duchenne-like muscular dystrophy to the pericentromeric region of chromosome 13q, Nature Genet., 2, 315-317.
2. Bönneman, C.G., Modi, R., Noguchi, S., Mizuno, Y., Yoshida, M., Gussoni, E., McNally, E.M., Duggan, D.J., Angelini, C., Hoffman, E.P., Ozawa, E., Kunkel, L.M. (1995). β-sarcoglycan (A3b) mutations cause autosomal recessive muscular dystrophy with loss of the sarcoglycan complex, Nature Genet., 11, 266-273.
3. Carrié, A., Piccolo, F., Leturcq, F., Azibi, K., Beldjord, C., de Toma, C., Chauch, M., Kerch, F.H., Merlini, L., Voit, T., Sewry, C., Urtizberea, J.A., Romero, N., Tome, F.M.S., Fardeau, M., Sunada, Y., Campbell, K.P., Kaplan, J.C., Jeanpierre, M. (1997). Mutational diversity and hot spots in the alpha-sarcoglycan gene in autosomal recessive muscular dystrophy (LGMD2D), J. Med. Genet.., 34, 470-475.
4. Dinçer, P., Leturcq, F., Richard, I., Piccolo, F., Yalni̊zoǧlu, D., de Toma, C., Akçören, Z., Broux, O., Deburgrave, N., Brenguier, L., Roudaut, C., Urtizberea, J.A., Jung, D., Tan, E., Jeanpierre, M., Campbell, K.P., Kaplan, J.C., Beckmann, J.S., Topaloglu, H. (1997). A biochemical, genetic and clinical survey of autosomal recessive limb girdle muscular dystrophies in Turkey, Ann. Neurol.., 42, 222-229.
5. Jung, D., Leturcq, F., Sunada, Y., Duclos, F., Tomé, F.M.S., Moomaw, C., Merlini, L., Azibi, K., Chaouch, M., Slaughter, C., Fardeau, M., Kaplan, J.C., Campbell, K.P. (1996). Absence of γ-sarcoglycan (35 DAG) in autosomal recessive muscular dystrophy linked to chromosome 13q12, FEBS Letters, 381, 15-20.
6. Lim, L.E., Duclos, F., Broux, O., Bourg, N., Sunada, Y., Allamand, V., Meyer, J., Richard, I., Moomaw, C., Slaughter, C., Tome, F.M.S., Fardeau, M., Jackson, C.E., Beckmann, J.S., Campbell, K.P. (1995). β-sarcoglycan: characterization and role in limb-girdle muscular dystrophy linked to 4q12, Nature Genet., 11, 257-265.
7. McNally, E.M., Passos-Bueno, M.R., Bönnemann, C.G., Vainzof, M., Moreira, E.S., Lidov, H.G.V., Ben Othmane, K., Denton, P.H., Vance, J.M., Zatz, M., Kunkel, L.M. (1996a). Mild and severe muscular dystrophy caused by a single γ-sarcoglycan mutation, Am. J. Hum. Genet., 59, 1040-1047.
8. McNally, E.M., Duggan, D., Gorospe, J.R., Bönnemann, C.G., Fanin, M., Pegarora, E., Lidov, H.G.W., Noguchi, S., Ozawa, E., Finkel, R.S., Cruse, R.P., Angelini, J., Kunkel, L.M., Hoffman, E.P. (1996b). Mutations that disrupt the carboxyl-terminus of gamma-sarcoglycan cause muscular dystrophy, Hum. Mol. Genet., 5, 1841-1847.
9. Nigro, V., Belsito, A., Politano, L., Puca, A., Papparella, S., Rossi, E., Viglietto, G., Esposito, M.G., Abbondanza, C., Medici, N., Molinari, A.M., Nigro, G., Puca, G.A. (1996a). Identification of a novel sarcoglycan gene at 5q33 encoding a sarcolemmal 35 kDa glycoprotein, Hum. Mol. Genet., 5, 1179-1186.
10. Nigro, V., Moreira, E.S., Piluso, G., Vainzof, M., Belsito, A., Politano, L., Puca, A., Passos-Bueno, M.R., Zatz, M. (1996b). Autosomal recessive limb-girdle muscular dystrophy, LGMD2F, is caused by a mutation in the δ-sarcoglycan gene, Nature Genet., 14, 195-198.
11. Noguchi, S., McNally, E.M., Ben Othmane, K., Hagiwara, Y., Mizuno, Y., Yoshida, M., Yamamato, H., Bönnemann, E., Gussoni, P.H., Denton, P.H., Kyriakides, T., Middleton, L., Hentati, F., Ben Hamida, M., Nonaka, I., Vance, J.M., Kunkel, L.M., Ozawa, E. (1995). Mutations in the dystrophin-associated protein γ-sarcoglycan in chromosome 13 muscular dystrophy, Science, 270, 819-822.
12. Piccolo, F., Roberds, S.L., Jeanpierre, M., Leturcq, F., Azibi, K., Beldjord, C., Carrié, A., Recan, D., Chaouch, M., Reghis, A., ElKerch, F., Sefiani, A., Voit, T., Merlini, L., Collin, H., Eymard, B., Beckmann, J.S., Romero, N.B., Tome, F.M.S., Fardeau, M., Campbell, K.P., Kaplan, J.C. (1995). Primary adhalinopathy: a common cause of autosomal recessive muscular dystrophy of variable severity, Nature Genet., 10, 243-245.
13. Restagno, G., Romero, N., Richard, I., Beckmann, J.S., Pagliano, M., Ferrone, M., Carbonara, A., Merlini, E. (1996). Prenatal diagnosis of limb-girdle muscular dystrophy type 2A, Neuromusc. Disord., 6, 173-176.
14. Roberds, S.L., Leturcq, F., Allamand, V., Piccolo, F., Jeanpierre, M., Anderson, R.D., Lim, L.E., Lee, J.C., Tome, F.M.S., Romero, N.B., Fardeau, M., Beckmann, J.S., Kaplan, J.C., Campbell, K.P. (1994). Missense mutations in the adhalin gene linked to autosomal recessive muscular dystrophy, Cell, 78, 625-633.