Poppe, M

The phenotype of limb-girdle muscular dystrophy type 2I. [electronic resource] - Neurology Apr 2003 - 1246-51 p. digital

Publication Type: Journal Article; Research Support, Non-U.S. Gov't

1526-632X

10.1212/01.wnl.0000058902.88181.3d doi


Adolescent
Adult
Amino Acid Substitution
Child
DNA Mutational Analysis
Disease Progression
Female
Genotype
Heart Failure--etiology
Humans
Laminin--deficiency
Magnetic Resonance Imaging
Male
Middle Aged
Muscle, Skeletal--chemistry
Muscular Dystrophies--classification
Mutation, Missense
Pentosyltransferases
Phenotype
Point Mutation
Proteins--genetics
Respiratory Insufficiency--etiology