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A RYR1 mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families
Author(s) -
Carpenter Danielle,
Ismail Azzam,
Robinson Rachel L.,
Ringrose Christopher,
Booms Patrick,
Iles David E.,
Halsall P. Jane,
Steele Derek,
Shaw MarieAnne,
Hopkins Philip M.
Publication year - 2009
Publication title -
muscle and nerve
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.025
H-Index - 145
eISSN - 1097-4598
pISSN - 0148-639X
DOI - 10.1002/mus.21397
Subject(s) - ryr1 , malignant hyperthermia , myopathy , congenital myopathy , mutation , genetics , medicine , biology , pathology , muscle biopsy , gene , biopsy , ryanodine receptor , intracellular
In this study we present 3 families with malignant hyperthermia (MH), all of Indian subcontinent descent. One individual from each of these families was fully sequenced for RYR1 and presented with the non‐synonymous change c.11315G>A/p.R3772Q. When present in the homozygous state c.11315*A is associated with myopathic symptoms. Muscle Nerve, 2009