TY  - GEN
AU  - Deschauer,M
AU  - Morgenroth,A
AU  - Joshi,P R
AU  - Gläser,D
AU  - Chinnery,P F
AU  - Aasly,J
AU  - Schreiber,H
AU  - Knape,M
AU  - Zierz,S
AU  - Vorgerd,M
TI  - Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations
SN  - 0340-5354
PY  - 2007///1207
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Aged
KW  - Child
KW  - Cohort Studies
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Europe
KW  - Female
KW  - Gene Frequency
KW  - Genetic Heterogeneity
KW  - Genetic Predisposition to Disease
KW  - ethnology
KW  - Genetic Testing
KW  - Genotype
KW  - Glycogen Phosphorylase, Muscle Form
KW  - genetics
KW  - Glycogen Storage Disease Type V
KW  - enzymology
KW  - Humans
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - Mutation, Missense
KW  - Phenotype
KW  - Polymorphism, Genetic
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1007/s00415-006-0447-x
ER  -