A  RYR1  mutation associated with recessive congenital myopathy and dominant malignant hyperthermia in Asian families | Zendy

Carpenter Danielle | Zendy; Ismail Azzam | Zendy; Robinson Rachel L. | Zendy; Ringrose Christopher | Zendy; Booms Patrick | Zendy; Iles David E. | Zendy; Halsall P. Jane | Zendy; Steele Derek | Zendy; Shaw MarieAnne | Zendy; Hopkins Philip M. | Zendy

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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

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