Article
Identical de novo mutation at the D4F104S1 locus in monozygotic male twins affected by facioscapulohumeral muscular dystrophy (FSHD) with different clinical expression.
Journal of medical genetics - 1 Sept 1998
Tupler R, Barbierato L, Memmi M, Sewry C A, De Grandis D, Maraschio P, Tiepolo L, Ferlini A
Abstract excerpt
Facioscapulohumeral muscular dystrophy (FSHD) is a progressive hereditary neuromuscular disorder, transmitted in an autosomal dominant fashion. Its clinical expression is highly variable, ranging from almost asymptomatic subjects to wheelchair dependent patients. The molecular defect has been lin...
Topics
- Adult
- Chromosomes, Human, Pair 4
- DNA Fingerprinting
- Diseases in Twins
- Haplotypes
- Humans
- Male
- Muscle Proteins
- Muscle, Skeletal
- Muscular Dystrophies
- Mutation
- Pedigree