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The genetics of malignant hyperthermia: Evidence for heterogeneity

✍ Scribed by McPherson, Elspeth ;Taylor, Claude A. ;Opitz, John M.

Publisher
John Wiley and Sons
Year
1982
Tongue
English
Weight
756 KB
Volume
11
Category
Article
ISSN
0148-7299

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✦ Synopsis

Abstract

Study of phenotype and familial distribution of malignant hyperthermia (MH) suggests heterogeneity with MH possibly being a symptom of several disorders. Review of all reported family studies supports the concept of heterogeneity with autosomal dominant inheritance in about one‐half of the families. There is no strong evidence for other mendelian patterns of inheritance, but sporadic and possibly multifactorially determined cases are common. MH is also seen in other musculoskeletal disorders. We report 12 Wisconsin families with MH and outline a preliminary approach to the counseling of MH patients and their families.

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