Inheritance of Malignant Hyperthermia—A Review of Published Data

Kalow, W.

doi:10.1007/978-1-4613-2079-1_7

Cited by 11 publications

(8 citation statements)

References 33 publications

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“…Malignant hyperthermia (MH) is a rare pharmacogenetic disorder of the skeletal muscles that is triggered by halogenated inhalation anesthetics and depolarizing muscle relaxants, such as halothane, isoflurane, and succinylcholine. Susceptibility to MH is considered to be inherited in an autosomal dominant mode [Kalow, 1987]. The typical MH crisis is characterized by a severe hypermetabolism syndrome, arising from an excessive calcium release in the skeletal muscles.…”

Section: Introductionmentioning

confidence: 99%

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

Rueffert¹,

Olthoff²,

Deutrich³

et al. 2003

American J of Med Genetics Pt A

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Malignant hyperthermia susceptibility (MHS) and central core disease (CCD) have been shown to result from missense mutations in the ryanodine receptor gene of the skeletal muscle (RYR1). A 15-year-old patient who had spondylocostal dysostosis (SCD) developed an MH crisis during general anesthesia. The patient was characterized phenotypically by block vertebrae, vertebral fusion, short neck and thorax, fused ribs, craniofacial abnormalities, spina bifida occulta, and a diaphragmatic defect closed surgically in early infancy. The diagnosis MH susceptible (MHS) was confirmed by the in vitro contracture test (IVCT) on a muscle biopsy. Surprisingly, the histopathological investigation revealed the presence of CCD too. Molecular genetic investigation of the RYR1 gene was performed to search for known MH-related mutations. Cluster regions of the RYR1 gene, in which mutations have already been found, were examined by direct automated sequencing. In addition to the diagnosis MHS and CCD we were able to identify a novel RYR1 mutation in exon 46: 7358ATC > ACC, resulting in an Ile2453Thr substitution. This mutation was also present in the mother, in whom MH disposition and CCD were determined by muscle investigations. We suggest that the newly identified RYR1 mutation is closely associated with MH and CCD. A probable causative role of the RYR1 gene in SCD patients should be assessed by further genetic investigations.

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Section: Introductionmentioning

confidence: 99%

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

Rueffert¹,

Olthoff²,

Deutrich³

et al. 2003

American J of Med Genetics Pt A

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“…M a l i g n a n t h y p e r t h e r m i a ( M H ) i s a w e l lcharacterized, usually dominantly inherited, hypermetabolic reaction to commonly used volatile anesthetics and depolarizing muscle relaxants [Kalow, 1987]. The condition is heterogeneous with at least six distinct susceptibility loci (RYR1 at 19q13.1, MHS 2 at 17q11.2-q24, MHS 3 at 7q21-q22, MHS 4 at 3q13.1, MHS 5 at 1q32, and MHS 6 at 5p).…”

Section: Discussionmentioning

confidence: 99%

King syndrome: Further clinical variability and review of the literature

et al. 1998

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The King syndrome is characterized by a Noonan-like phenotype, the presence of a nonspecific myopathy and a predisposition to malignant hyperthermia. In some families, mild physical manifestations of the phenotype and/or elevated serum creatine phosphokinase (CPK) in relatives suggest the presence of an autosomal dominant myopathy with variable expressivity. We summarize the cases of 14 previously reported patients and describe a new patient, a 7-year-old girl, with the King syndrome and the unique findings of diaphragmatic eventration, tethered spinal cord, and severe paucity of type 2 skeletal muscle fibers. It has been proposed that the King syndrome represents a common phenotype that may result from several different slowly progressive congenital myopathies. This hypothesis, and the phenotypic overlap between the King and Noonan syndromes are discussed in light of the findings in this new patient.

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“…Da es sich um eine hereditäre Erkrankung mit autosomal-dominantem Erbgang handelt, werden Familien mit einer positiven MH-Anamnese üblicherweise mit Hilfe des In-vitro-Kontrakturtests (IVKT) auf ihre Veranlagung untersucht [13]. Da es sich um eine hereditäre Erkrankung mit autosomal-dominantem Erbgang handelt, werden Familien mit einer positiven MH-Anamnese üblicherweise mit Hilfe des In-vitro-Kontrakturtests (IVKT) auf ihre Veranlagung untersucht [13].…”

Section: In-vitro-kontrakturtest Und Gentypisierung In Der Maligne Hyunclassified

In-vitro-Kontrakturtest und Gentypisierung in der Maligne Hyperthermie-Diagnostik

et al. 2000

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Inheritance of Malignant Hyperthermia—A Review of Published Data

Cited by 11 publications

References 33 publications

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

A new mutation in the skeletal ryanodine receptor gene (RYR1) is potentially causative of malignant hyperthermia, central core disease, and severe skeletal malformation

King syndrome: Further clinical variability and review of the literature

In-vitro-Kontrakturtest und Gentypisierung in der Maligne Hyperthermie-Diagnostik

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