Journal article

Diagnosis and etiology of congenital muscular dystrophy

RA Peat, JM Smith, AG Compton, NL Baker, RA Pace, DJ Burkin, SJ Kaufman, SR Lamande, KN North

Neurology | LIPPINCOTT WILLIAMS & WILKINS | Published : 2008

DOI: 10.1212/01.wnl.0000284605.27654.5a

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48Web of Science
61Scopus

Keywords

Muscle, Skeletal
Eye-Brain Disease
Muscle Development
Neurosciences & Neurology
Dystroglycans
Ethnic Groups
Infant, Newborn
Infant
Australasia
Muscle Proteins
Female
Cohort Studies
Muscular Dystrophies
Dna Mutational Analysis
Mannosyltransferases
Clinical Neurology
Walker-Warburg-Syndrome
Abnormal Glycosylation
Bethlem Myopathy
Genotype
N-Acetylglucosaminyltransferases
Science & Technology
Genetic Predisposition To Disease
Humans
Severe Mental-Retardation
Male
Mutation
Diagnosis, Differential
Membrane Proteins
Alpha-Dystroglycan
Fluorescent Antibody Technique
Collagen-Vi
Mutations
Life Sciences & Biomedicine
Collagen Type Vi
Genetic Screening
Blotting, Western
Child, Preschool
Genetic Testing
Laminin Alpha-2