Fifty year follow-up of a patient with central core disease shows slow but definite progression (Q77131920)

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3 December 2019

title

Fifty year follow-up of a patient with central core disease shows slow but definite progression (English)

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3 December 2019

author

John A. Morgan-Hughes

5

object named as

J A Morgan-Hughes

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3 December 2019

author name string

P J Lamont

1

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3 December 2019

V Dubowitz

2

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3 December 2019

D N Landon

3

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3 December 2019

M Davis

4

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3 December 2019

publication date

1 August 1998

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3 December 2019

published in

Neuromuscular Disorders

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3 December 2019

volume

8

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3 December 2019

issue

6

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3 December 2019

page(s)

385-391

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A new congenital non-progressive myopathy

3 December 2019

cites work

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7 January 2021

Central core disease. Study of a family with five affected generations

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Familial non-progressive myopathy with muscle cramps after exercise. A new disease associated with cores in the muscle fibres.

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7 January 2021

Central core disease of muscle: clinical, histochemical and electron microscopic studies of an affected mother and child

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Central core disease-an investigation of a rare muscle cell abnormality.

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Mutation screening of the RYR1 gene in malignant hyperthermia: detection of a novel Tyr to Ser mutation in a pedigree with associated central cores

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7 January 2021

Refinement of diagnostic assays for a probable causal mutation for porcine and human malignant hyperthermia

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7 January 2021

Mutations in the ryanodine receptor gene in central core disease and malignant hyperthermia

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7 January 2021

A mutation in the human ryanodine receptor gene associated with central core disease

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7 January 2021

The substitution of Arg for Gly2433 in the human skeletal muscle ryanodine receptor is associated with malignant hyperthermia

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7 January 2021

A simple method to detect the RYR1 mutation G1021A, a cause of malignant hyperthermia susceptibility

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7 January 2021

The structural organization of the human skeletal muscle ryanodine receptor (RYR1) gene

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7 January 2021

Central core disease or not? Observations on a family with a non-progressive myopathy

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7 January 2021

Central core disease: clinical and pathological evidence of progression within a family

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7 January 2021

Central-core disease and malignant hyperpyrexia

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7 January 2021

Evidence for linkage of the central core disease locus to the proximal long arm of human chromosome 19.

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7 January 2021

Malignant-hyperthermia susceptibility is associated with a mutation of the alpha 1-subunit of the human dihydropyridine-sensitive L-type voltage-dependent calcium-channel receptor in skeletal muscle

1 reference

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7 January 2021

Excitation-contraction uncoupling and muscular degeneration in mice lacking functional skeletal muscle ryanodine-receptor gene

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7 January 2021

Central core disease: ultrastructure of the sarcoplasmic reticulum and T-tubules

1 reference

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7 January 2021

10.1016/S0960-8966(98)00043-1

Identifiers

DOI

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3 December 2019

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