Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement-Reference-Cited by-同舟云学术

Mutations in MYH7 cause Multi-minicore Disease (MmD) with variable cardiac involvement

Published:2012-12 Issue:12 Volume:22 Page:1096-1104
ISSN:0960-8966
Container-title:Neuromuscular Disorders
language:en
Short-container-title:Neuromuscular Disorders

Author:

Cullup T.,Lamont P.J.,Cirak S.,Damian M.S.,Wallefeld W.,Gooding R.,Tan S.V.,Sheehan J.,Muntoni F.,Abbs S.,Sewry C.A.,Dubowitz V.,Laing N.G.,Jungbluth H.

Publisher

Elsevier BV

Subject

Genetics (clinical),Neurology (clinical),Neurology,Pediatrics, Perinatology and Child Health

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4. A homozygous splicing mutation causing a depletion of skeletal muscle RYR1 is associated with multi-minicore disease congenital myopathy with ophthalmoplegia;Monnier;Hum Mol Genet,2003

5. A mutation in the human ryanodine receptor gene associated with central core disease;Zhang;Nat Genet,1993

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