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Table 2 Rare mutations in the myostatin gene in the Western world and Japan

From: Two novel missense mutations in the myostatin gene identified in Japanese patients with Duchenne muscular dystrophy

mutation

Japan (n = 102)

USA (n = 189)

Italy (n = 120)

Belgium (n = 57)

p.95D>H

1

ND

ND

ND

p.156L>I

1

ND

ND

ND

p.164E>K

4

2

0

0

p.185R>T

0

ND

1

ND

p.198P>A

0

1

0

0

p.225I>T

0

2

0

ND

c.747+8G>A

0

1

0

ND

c.2264-2265 del AT

1

ND

ND

ND

  1. ND not determined, n number of individuals studied
  2. All numbers show individuals with mutation in heterozygote
  3. Data are from the USA, Italy, and Belgium [15-17, 27].
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BMC Medical Genetics

ISSN: 1471-2350

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