Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. (Q34174854)

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17 December 2019

title

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene (English)

1 reference

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17 December 2019

main subject

transmembrane protein

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author

Heinz Jungbluth

3

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17 December 2019

Kathryn North

5

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17 December 2019

Thierry Kuntzer

7

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17 December 2019

Aurora Sanchez Diaz

11

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17 December 2019

Nigel G Laing

21

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17 December 2019

author name string

M R Davis

1

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17 December 2019

E Haan

2

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17 December 2019

C Sewry

4

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17 December 2019

F Muntoni

6

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17 December 2019

P Lamont

8

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17 December 2019

A Bankier

9

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17 December 2019

P Tomlinson

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17 December 2019

P Walsh

12

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17 December 2019

L Nagarajan

13

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17 December 2019

C Oley

14

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17 December 2019

A Colley

15

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17 December 2019

A Gedeon

16

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17 December 2019

R Quinlivan

17

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17 December 2019

J Dixon

18

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17 December 2019

D James

19

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17 December 2019

C R Müller

20

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17 December 2019

publication date

1 February 2003

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17 December 2019

published in

Neuromuscular Disorders

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17 December 2019

volume

13

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17 December 2019

issue

2

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17 December 2019

page(s)

151-157

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The role of immunocytochemistry in congenital myopathies

17 December 2019

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A mutation in the transmembrane/luminal domain of the ryanodine receptor is associated with abnormal Ca2+ release channel function and severe central core disease

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7 January 2021

Familial and sporadic forms of central core disease are associated with mutations in the C-terminal domain of the skeletal muscle ryanodine receptor

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7 January 2021

Identification of four novel mutations in the C-terminal membrane spanning domain of the ryanodine receptor 1: association with central core disease and alteration of calcium homeostasis

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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7 January 2021

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Identifiers

DOI

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17 December 2019

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