TY  - GEN
AU  - Brockington,M
AU  - Yuva,Y
AU  - Prandini,P
AU  - Brown,S C
AU  - Torelli,S
AU  - Benson,M A
AU  - Herrmann,R
AU  - Anderson,L V
AU  - Bashir,R
AU  - Burgunder,J M
AU  - Fallet,S
AU  - Romero,N
AU  - Fardeau,M
AU  - Straub,V
AU  - Storey,G
AU  - Pollitt,C
AU  - Richard,I
AU  - Sewry,C A
AU  - Bushby,K
AU  - Voit,T
AU  - Blake,D J
AU  - Muntoni,F
TI  - Mutations in the fukutin-related protein gene (FKRP) identify limb girdle muscular dystrophy 2I as a milder allelic variant of congenital muscular dystrophy MDC1C
SN  - 0964-6906
PY  - 2002///0207
KW  - Adolescent
KW  - Adult
KW  - Age of Onset
KW  - Blotting, Western
KW  - Calpain
KW  - metabolism
KW  - Child
KW  - Child, Preschool
KW  - Chromosomes, Human, Pair 19
KW  - genetics
KW  - Cytoskeletal Proteins
KW  - deficiency
KW  - DNA Primers
KW  - chemistry
KW  - Dystroglycans
KW  - Female
KW  - Genetic Linkage
KW  - Genotype
KW  - Haplotypes
KW  - Humans
KW  - Immunoenzyme Techniques
KW  - Infant
KW  - Laminin
KW  - Male
KW  - Membrane Glycoproteins
KW  - Microsatellite Repeats
KW  - Middle Aged
KW  - Muscular Dystrophies
KW  - congenital
KW  - Mutation
KW  - Pedigree
KW  - Pentosyltransferases
KW  - Phenotype
KW  - Polymerase Chain Reaction
KW  - Proteins
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1093/hmg/10.25.2851
ER  -