Abstract:
: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.
journal_name
Muscle Nervejournal_title
Muscle & nerveauthors
Carpenter D,Ismail A,Robinson RL,Ringrose C,Booms P,Iles DE,Halsall PJ,Steele D,Shaw MA,Hopkins PMdoi
10.1002/mus.21397subject
Has Abstractpub_date
2009-10-01 00:00:00pages
633-9issue
4eissn
0148-639Xissn
1097-4598journal_volume
40pub_type
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