The first European family with tibial muscular dystrophy outside the Finnish population

被引：27

作者：

de Seze, J

Udd, B

Haravuori, H

Sablonnière, B

Maurage, CA

Hurtevent, JF

Boutry, N

Stojkovic, T

Schraen, S

Petit, H

Vermersch, P

机构：

[1] Hop R Salengro, Dept Neurol, Lille, France

[2] Hop R Salengro, Dept Human Mol Genet, Lille, France

[3] Hop R Salengro, Dept Neuropathol, Lille, France

[4] Hop R Salengro, Dept Neurophysiol, Lille, France

[5] Hop R Salengro, Dept Radiol, Lille, France

[6] Vasa Cent Hosp, Dept Neurol, Vasa, Finland

[7] Natl Publ Hlth Inst, Dept Human Mol Genet, Helsinki, Finland

来源：

NEUROLOGY | 1998年 / 51卷 / 06期

关键词：

D O I：

10.1212/WNL.51.6.1746

中图分类号：

R74 [神经病学与精神病学];

学科分类号：

摘要：

We report the first European tibial muscular dystrophy (TMD) family outside the Finnish population. Clinical examination showed late onset distal leg myopathy similar to the description of TMD. A molecular genetic study was made owing to the very recent TMD linkage findings on chromosome 2q31. All five clinically affected patients segregated a specific haplotype for the locus, whereas two unaffected patients had different haplotype. The results of this family without Finnish ancestors show that TMD exists outside the Finnish population.

引用

页码：1746 / 1748

页数：3

共 10 条

[1]

Aaltonen J., 1993, European Journal of Human Genetics, V1, P164

[2] LINKAGE OF MIYOSHI MYOPATHY (DISTAL AUTOSOMAL RECESSIVE MUSCULAR-DYSTROPHY) LOCUS TO CHROMOSOME 2P12-14 [J].

BEJAOUI, K ;

HIRABAYASHI, K ;

HENTATI, F ;

HAINES, JL ;

BENHAMIDA, C ;

BELAL, S ;

MILLER, RG ;

MCKENNAYASEK, D ;

WEISSENBACH, J ;

ROWLAND, LP ;

GRIGGS, RC ;

MUNSAT, TL ;

BENHAMIDA, M ;

ARAHATA, K ;

BROWN, RH .

NEUROLOGY, 1995, 45 (04) :768-772

[3] Assignment of the tibial muscular dystrophy locus to chromosome 2q31 [J].

Haravuori, H ;

Makela-Bengs, P ;

Udd, B ;

Partanen, J ;

Pulkkinen, L ;

Somer, H ;

Peltonen, L .

AMERICAN JOURNAL OF HUMAN GENETICS, 1998, 62 (03) :620-626

[4] Gene locus for autosomal recessive distal myopathy with rimmed vacuoles maps to chromosome 9 [J].

Ikeuchi, T ;

Asaka, T ;

Saito, M ;

Tanaka, H ;

Higuchi, S ;

Tanaka, K ;

Saida, K ;

Uyama, E ;

Mizusawa, H ;

Fukuhara, N ;

Nonaka, I ;

Takamori, M ;

Tsuji, S .

ANNALS OF NEUROLOGY, 1997, 41 (04) :432-437

[5]

LAING NG, 1995, AM J HUM GENET, V56, P422

[6] LATE ONSET HEREDITARY DISTAL MYOPATHY [J].

MARKESBERY, WR ;

GRIGGS, RC ;

LEACH, RP ;

LAPHAM, LW .

NEUROLOGY, 1974, 24 (02) :127-134

[7] Hereditary inclusion body myopathy maps to chromosome 9p1-q1 [J].

MitraniRosenbaum, S ;

Argov, Z ;

Blumenfeld, A ;

Seidman, CE ;

Seidman, JG .

HUMAN MOLECULAR GENETICS, 1996, 5 (01) :159-163

[8] TIBIAL MUSCULAR-DYSTROPHY - LATE ADULT-ONSET DISTAL MYOPATHY IN 66 FINNISH PATIENTS [J].

UDD, B ;

PARTANEN, J ;

HALONEN, P ;

FALCK, B ;

HAKAMIES, L ;

HEIKKILA, H ;

INGO, S ;

KALIMO, H ;

KAARIAINEN, H ;

LAULUMAA, V ;

PALJARVI, L ;

RAPOLA, J ;

REUNANEN, M ;

SONNINEN, V ;

SOMER, H .

ARCHIVES OF NEUROLOGY, 1993, 50 (06) :604-608

[9] Tibial muscular dystrophy - from clinical description to linkage on chromosome 2q31 [J].

Udd, B ;

Haravuori, H ;

Kalimo, H ;

Partanen, J ;

Pulkkinen, L ;

Paetau, A ;

Peltonen, L ;

Somer, H .

NEUROMUSCULAR DISORDERS, 1998, 8 (05) :327-332

[10] MAPPING THE FACIOSCAPULOHUMERAL MUSCULAR-DYSTROPHY GENE IS COMPLICATED BY CHROMOSOME-4Q35 RECOMBINATION EVENTS [J].

WEIFFENBACH, B ;

DUBOIS, J ;

STORVICK, D ;

TAWIL, R ;

JACOBSEN, SJ ;

GILBERT, J ;

WIJMENGA, C ;

MENDELL, JR ;

WINOKUR, S ;

ALTHERR, MR ;

SCHULTZ, P ;

OLANDT, S ;

FRANTS, RR ;

PERICAKVANCE, M ;

GRIGGS, RC .

NATURE GENETICS, 1993, 4 (02) :165-169

← 1 →