TY  - GEN
AU  - Berciano,J
AU  - Gallardo,E
AU  - Domínguez-Perles,R
AU  - Gallardo,E
AU  - García,A
AU  - García-Barredo,R
AU  - Combarros,O
AU  - Infante,J
AU  - Illa,I
TI  - Autosomal-dominant distal myopathy with a myotilin S55F mutation: sorting out the phenotype
SN  - 1468-330X
PY  - 2008///0206
KW  - Adipose Tissue
KW  - pathology
KW  - Adult
KW  - Aged
KW  - Amino Acid Substitution
KW  - genetics
KW  - Atrophy
KW  - Biopsy
KW  - Chromosome Aberrations
KW  - Codon
KW  - Connectin
KW  - Creatine Kinase
KW  - blood
KW  - Cytoskeletal Proteins
KW  - DNA Mutational Analysis
KW  - Electromyography
KW  - Exons
KW  - Female
KW  - Genes, Dominant
KW  - Genetic Carrier Screening
KW  - Humans
KW  - Leg
KW  - Magnetic Resonance Imaging
KW  - Male
KW  - Microfilament Proteins
KW  - Middle Aged
KW  - Muscle Proteins
KW  - Muscle Weakness
KW  - diagnosis
KW  - Muscle, Skeletal
KW  - Muscular Atrophy
KW  - Muscular Diseases
KW  - Muscular Dystrophies, Limb-Girdle
KW  - Mutation, Missense
KW  - Neurologic Examination
KW  - Pedigree
KW  - Phenotype
KW  - Phenylalanine
KW  - Serine
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1136/jnnp.2007.125435
ER  -