Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products.

doi:10.1001/archneur.1993.00540110101010

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Article

Duchenne-Becker muscular dystrophy and the nondystrophic myotonias. Paradigms for loss of function and change of function of gene products.

Archives of neurology - 1 Nov 1993

Hoffman E P, Wang J

Abstract excerpt

Recessively inherited disorders can most often be considered loss of function: the patient has only defective copies of the defective gene (homozygous or hemizygous), with little or no functional protein products produced. Dominantly inherited disorders can most often be considered change of func...

Topics

Dystrophin
Female
Genetic Therapy
Humans
Hyperkalemia
Muscles
Muscular Dystrophies
Mutation
Myotonia
Myotonia Congenita
Paralyses, Familial Periodic
Sodium Channels
Spectrin

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