Adult onset multi/minicore myopathy associated with a mutation in the RYR1 gene

Subjects

Subjects :

Male
DNA Mutational Analysis
pathology/ultrastructure
Biology
Arginine
Electron
genetics, Creatine Kinase
metabolism, Cysteine
genetics, DNA Mutational Analysis, Electromyography, Humans, Male, Microscopy
Electron, Middle Aged, Muscle
Skeletal
pathology/ultrastructure, Muscular Diseases
genetics/pathology/physiopathology, Mutation, Ryanodine Receptor Calcium Release Channel
genetics, Succinate Dehydrogenase
metabolism
Muscular Diseases
Humans
genetics
Cysteine
Creatine Kinase
Gene
Minicore myopathy
RYR1
Genetics
Microscopy
Electromyography
genetics/pathology/physiopathology
Ryanodine Receptor Calcium Release Channel
Middle Aged
Succinate Dehydrogenase
Neurology
Mutation
Mutation (genetic algorithm)
Muscle
Neurology (clinical)

Details

ISSN :

14321459 and 03405354

Volume :

251

Database :

OpenAIRE

Journal :

Journal of Neurology

Accession number :

edsair.doi.dedup.....0c4a40f4120117e30cee0b4c81427b97

Full Text :

https://doi.org/10.1007/s00415-004-0220-y