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Genetic recombination between malignant hyperthermia and calcium release channel in skeletal muscle
Author(s) -
Fagerlund T.,
Islander G.,
Ranklov E.,
Harbltz I.,
Hange J. G.,
Mokleby E.,
Barg K.
Publication year - 1992
Publication title -
clinical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.543
H-Index - 102
eISSN - 1399-0004
pISSN - 0009-9163
DOI - 10.1111/j.1399-0004.1992.tb03680.x
Subject(s) - malignant hyperthermia , skeletal muscle , gene , genetic linkage , calcium , genetics , chromosome , biology , endoplasmic reticulum , linkage (software) , recombination , endocrinology , medicine , pathology
Absolute linkage between the gene, on chromosome 19, for the calcium release channel (CRC) of the sarcoplasmic reticulum in skeletal muscle and malignant hyperthermia (MH) has been reported by other workers. In the present study of three Swedish Families informative with respect to this linkage relationship, definite recombinants were found in two families. We conclude that mutations in other genes than the CRC gene can cause the clinical picture of MH. Accordingly, MH appears to be genetically heterogeneous.