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

M.R. Davis, E. Haan, H. Jungbluth, C. Sewry, K. North, F. Muntoni, T. Kuntzer, P. Lamont, A. Bankier, P. Tomlinson, A. Sanchez, P. Walsh, L. Nagarajan, C. Oley, A. Colley, A. Gedeon, R. Quinlivan, J. Dixon, D. James, C.R. Muller & 1 others Nigel Laing

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Abstract

The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. (C) 2002 Elsevier Science B.V. All rights reserved.
Original languageEnglish
Pages (from-to)151-157
JournalNeuromuscular Disorders
Volume13
Issue number2
DOIs
Publication statusPublished - 2003

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Central Core Myopathy
Muscular Diseases
Mutation
Nemaline Myopathies
Myotonia Congenita
Genes
Penetrance
Calcium Channels
DNA Sequence Analysis
Exons
Skeletal Muscle
Muscles

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Davis, M.R. ; Haan, E. ; Jungbluth, H. ; Sewry, C. ; North, K. ; Muntoni, F. ; Kuntzer, T. ; Lamont, P. ; Bankier, A. ; Tomlinson, P. ; Sanchez, A. ; Walsh, P. ; Nagarajan, L. ; Oley, C. ; Colley, A. ; Gedeon, A. ; Quinlivan, R. ; Dixon, J. ; James, D. ; Muller, C.R. ; Laing, Nigel. / Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. In: Neuromuscular Disorders. 2003 ; Vol. 13, No. 2. pp. 151-157.
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title = "Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene",
abstract = "The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. (C) 2002 Elsevier Science B.V. All rights reserved.",
author = "M.R. Davis and E. Haan and H. Jungbluth and C. Sewry and K. North and F. Muntoni and T. Kuntzer and P. Lamont and A. Bankier and P. Tomlinson and A. Sanchez and P. Walsh and L. Nagarajan and C. Oley and A. Colley and A. Gedeon and R. Quinlivan and J. Dixon and D. James and C.R. Muller and Nigel Laing",
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Davis, MR, Haan, E, Jungbluth, H, Sewry, C, North, K, Muntoni, F, Kuntzer, T, Lamont, P, Bankier, A, Tomlinson, P, Sanchez, A, Walsh, P, Nagarajan, L, Oley, C, Colley, A, Gedeon, A, Quinlivan, R, Dixon, J, James, D, Muller, CR & Laing, N 2003, 'Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene' Neuromuscular Disorders, vol. 13, no. 2, pp. 151-157. https://doi.org/10.1016/S0960-8966(02)00218-3

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene. / Davis, M.R.; Haan, E.; Jungbluth, H.; Sewry, C.; North, K.; Muntoni, F.; Kuntzer, T.; Lamont, P.; Bankier, A.; Tomlinson, P.; Sanchez, A.; Walsh, P.; Nagarajan, L.; Oley, C.; Colley, A.; Gedeon, A.; Quinlivan, R.; Dixon, J.; James, D.; Muller, C.R.; Laing, Nigel.

In: Neuromuscular Disorders, Vol. 13, No. 2, 2003, p. 151-157.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

AU - Davis, M.R.

AU - Haan, E.

AU - Jungbluth, H.

AU - Sewry, C.

AU - North, K.

AU - Muntoni, F.

AU - Kuntzer, T.

AU - Lamont, P.

AU - Bankier, A.

AU - Tomlinson, P.

AU - Sanchez, A.

AU - Walsh, P.

AU - Nagarajan, L.

AU - Oley, C.

AU - Colley, A.

AU - Gedeon, A.

AU - Quinlivan, R.

AU - Dixon, J.

AU - James, D.

AU - Muller, C.R.

AU - Laing, Nigel

PY - 2003

Y1 - 2003

N2 - The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. (C) 2002 Elsevier Science B.V. All rights reserved.

AB - The congenital myopathies are a group of disorders characterised by the predominance of specific histological features observed in biopsied muscle. Central core disease and nemaline myopathy are examples of congenital myopathies that have specific histological characteristics but significantly overlapping clinical pictures. Central core disease is an autosomal dominant disorder with variable penetrance which has been linked principally to the gene for the skeletal muscle calcium release channel (RYR1). Two recent reports have identified the 3' transmembrane domain of this gene as a common site for mutations. Two other studies have reported single families that have features of both central core disease and nemaline myopathy (core/rod disease) caused by mutations in RYR1. Screening of the 3' region (exons 93-105) of the RYR1 gene for mutations in 27 apparently unrelated patients with either central core disease or core/rod disease by single strand conformation polymorphism analysis and DNA sequencing identified three described and nine novel mutations in 15 patients. (C) 2002 Elsevier Science B.V. All rights reserved.

U2 - 10.1016/S0960-8966(02)00218-3

DO - 10.1016/S0960-8966(02)00218-3

M3 - Article

VL - 13

SP - 151

EP - 157

JO - Neuromuscular Disorders

JF - Neuromuscular Disorders

SN - 0960-8966

IS - 2

ER -