Statistics


Among the information reported by the LOVD register, everybody can note that, as far as the beta-sarcoglicanopathy is concerned, the most frequent mutations involve the num. 1 and num. 3 exons. In Italy the most frequent mutation refers to the duplication of eight nucleotides (starting from the num. 377 up to the num. 384) on the num. 3 exon. This has been found in 23 cases. The same case has been adverted once in Brazil.

number of patients

(The last update is dated august 30, 2011)

 

tabella

Here is the representative sketch of the beta-sarcoglycan gene.

organization of the beta-sarcoglycan gene.

Filled in boxes signify coding regions, open boxes refer to untranslated regions.

Exons are designatedE1–E6. Intron numbering follows exon numbering.

Approximate intron sizes are indicated in kilobases (kb).

Into the same database you can find information about the distribution of this disease in each country. Germany has the biggest number of cases: 123. Italy follows with 45 cases, gathered around the north-east area of the country.

distribuzione malattia
distribuzione malattia

 

States

 

LGMD2E patients number

 

 

ITALY

 

45

 

GERMANY

 

123

 

FRANCE

 

21

 

SPAIN

 

2

 

GREECE

 

1

 

PORTUGAL

 

6

 

NETHERLANDS

 

33

SWITZERLAND –NORWAY-ROMANIA-RUSSIA-SLOVENIA- SOVIET UNION -IRELAND-GEORGIA- HUNGARY -FINLAND-AUSTRIA-POLAND-YUGOSLAVIA-BELGIUM-DENMARK- LUXEMBOURG- SWEDEN

 

 

 

NO CASES REPORTED

 

USA

 

26

 

BRASIL

 

26

 

INDIA

 

4

 

TURCHEY

 

19

JAPAN-JORDAN-LIBYA-MAROCCO-PARAGUAY- SAUDI ARABIA -TUNISIA-SUDAN-SYRIA-IRAQ-IRAN-ARGENTINE-INDONESIA-AUSTRALIA-CANADA-CHINA-EGYPT-MEXICO -URUGUAY

 

 

 

NO CASES REPORTED

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