Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.

Marcus Broman; Isabel Kleinschnitz; Elisa J Bach; Simone Rost; Gunilla Islander; Clemens R Müller

doi:10.1111/cge.12508

Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.

Marcus Broman, Isabel Kleinschnitz, Elisa J Bach, Simone Rost, Gunilla Islander, Clemens R Müller

Anesthesiology and Intensive Care

Research output: Contribution to journal › Article › peer-review

Abstract

Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes.

Original language	English
Pages (from-to)	381-385
Journal	Clinical Genetics
Volume	88
Issue number	4
DOIs	https://doi.org/10.1111/cge.12508
Publication status	Published - 2015

Subject classification (UKÄ)

Medical Genetics and Genomics (including Gene Therapy)

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10.1111/cge.12508

http://www.ncbi.nlm.nih.gov/pubmed/25256590?dopt=Abstract

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title = "Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.",

abstract = "Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes.",

author = "Marcus Broman and Isabel Kleinschnitz and Bach, {Elisa J} and Simone Rost and Gunilla Islander and M{\"u}ller, {Clemens R}",

year = "2015",

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AU - Broman, Marcus

AU - Kleinschnitz, Isabel

AU - Bach, Elisa J

AU - Rost, Simone

AU - Islander, Gunilla

AU - Müller, Clemens R

PY - 2015

Y1 - 2015

N2 - Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes.

AB - Malignant Hyperthermia (MH) related mutations have been identified in the ryanodine receptor type 1 gene (RYR1) and in the dihydropyridine gene (CACNA1S), but about half of the patients do not have causative mutations in these genes. We wanted to study the contribution of other muscle genes to the RYR1 phenotypes.

U2 - 10.1111/cge.12508

DO - 10.1111/cge.12508

M3 - Article

C2 - 25256590

SN - 0009-9163

VL - 88

SP - 381

EP - 385

JO - Clinical Genetics

JF - Clinical Genetics

IS - 4

ER -

Next generation DNA sequencing of a Swedish Malignant Hyperthermia cohort.

Abstract

Subject classification (UKÄ)

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