TY  - GEN
AU  - Scacheri,P C
AU  - Gillanders,E M
AU  - Subramony,S H
AU  - Vedanarayanan,V
AU  - Crowe,C A
AU  - Thakore,N
AU  - Bingler,M
AU  - Hoffman,E P
TI  - Novel mutations in collagen VI genes: expansion of the Bethlem myopathy phenotype
SN  - 0028-3878
PY  - 2002///0415
KW  - Adolescent
KW  - Adult
KW  - Aged
KW  - Child
KW  - Chromosomes, Human, Pair 21
KW  - genetics
KW  - Collagen Type VI
KW  - Female
KW  - Humans
KW  - Lod Score
KW  - Male
KW  - Middle Aged
KW  - Muscle, Skeletal
KW  - metabolism
KW  - Muscular Diseases
KW  - Muscular Dystrophies
KW  - Mutation
KW  - Pedigree
KW  - Phenotype
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't; Research Support, U.S. Gov't, P.H.S
UR  - https://doi.org/10.1212/wnl.58.4.593
ER  -