TY  - GEN
AU  - Poppe,M
AU  - Cree,L
AU  - Bourke,J
AU  - Eagle,M
AU  - Anderson,L V B
AU  - Birchall,D
AU  - Brockington,M
AU  - Buddles,M
AU  - Busby,M
AU  - Muntoni,F
AU  - Wills,A
AU  - Bushby,K
TI  - The phenotype of limb-girdle muscular dystrophy type 2I
SN  - 1526-632X
PY  - 2004///0114
KW  - Adolescent
KW  - Adult
KW  - Amino Acid Substitution
KW  - Child
KW  - DNA Mutational Analysis
KW  - Disease Progression
KW  - Female
KW  - Genotype
KW  - Heart Failure
KW  - etiology
KW  - Humans
KW  - Laminin
KW  - deficiency
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - chemistry
KW  - Muscular Dystrophies
KW  - classification
KW  - Mutation, Missense
KW  - Pentosyltransferases
KW  - Phenotype
KW  - Point Mutation
KW  - Proteins
KW  - genetics
KW  - Respiratory Insufficiency
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1212/01.wnl.0000058902.88181.3d
ER  -