Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. (Q51980072)

19 April 2018

title

Mutations of calpain 3 gene in patients with sporadic limb-girdle muscular dystrophy in Japan. (English)

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19 April 2018

limb-girdle muscular dystrophy

main subject

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2

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19 April 2018

author name string

Minami N

1

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19 April 2018

Kobayashi O

3

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19 April 2018

Ikezoe K

4

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19 April 2018

Goto Y

5

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19 April 2018

Nonaka I

6

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19 April 2018

publication date

1 December 1999

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19 April 2018

Journal of the Neurological Sciences

published in

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19 April 2018

volume

171

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19 April 2018

issue

1

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19 April 2018

page(s)

31-37

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19 April 2018

On the classification, natural history and treatment of the myopathies.

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The seventh form of autosomal recessive limb-girdle muscular dystrophy is mapped to 17q11-12

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Muscle-specific calpain, p94, responsible for limb girdle muscular dystrophy type 2A, associates with connectin through IS2, a p94-specific sequence

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Clinical, pathological, and genetic features of limb-girdle muscular dystrophy type 2A with new calpain 3 gene mutations in seven patients from three Japanese families

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10.1016/S0022-510X(99)00245-2

7 January 2021

Identifiers

DOI

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19 April 2018

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19 April 2018